UniProtKB - P13569 (CFTR_HUMAN)
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- BLAST>sp|P13569|CFTR_HUMAN Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=3 MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRE LASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIA IYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQL VSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGL GRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAA YVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQT WYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRK TSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEG KIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIV LGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTR ILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNS ILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQ MNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQG QNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESI PAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRN NSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAP MSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATV PVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHK ALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIM STLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKK DDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRL LNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVAD EVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVT YQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQA ISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL
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Protein
Cystic fibrosis transmembrane conductance regulator
Gene
CFTR
Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:
Annotation score:5 out of 5
<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>Select a section on the left to see content.
<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni
Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:15010471, PubMed:12588899, PubMed:17036051, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898, PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731, PubMed:26846474, PubMed:28087700). Channel activity is coupled to ATP hydrolysis (PubMed:8910473). The ion channel is also permeable to HCO3-; selectivity depends on the extracellular chloride concentration (PubMed:15010471, PubMed:19019741). Exerts its function also by modulating the activity of other ion channels and transporters (PubMed:12403779, PubMed:22178883, PubMed:22121115, PubMed:27941075). Plays an important role in airway fluid homeostasis (PubMed:16645176, PubMed:19621064, PubMed:26823428). Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens (PubMed:14668433, PubMed:16645176, PubMed:26823428). Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex (PubMed:17434346, PubMed:27941075, PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:27941075). May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7 (PubMed:12403779). Can inhibit the chloride channel activity of ANO1 (PubMed:22178883). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (PubMed:19923167, PubMed:27714810).1 Publication
<p>Manually curated information which has been inferred by a curator based on his/her scientific knowledge or on the scientific content of an article.</p> <p><a href="/manual/evidences#ECO:0000305">More...</a></p> Manual assertion inferred by curator fromi
- Ref.32"CFTR is essential for sperm fertilizing capacity and is correlated with sperm quality in humans."
Li C.Y., Jiang L.Y., Chen W.Y., Li K., Sheng H.Q., Ni Y., Lu J.X., Xu W.X., Zhang S.Y., Shi Q.X.
Hum. Reprod. 25:317-327(2010) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, TISSUE SPECIFICITY.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.10"A functional R domain from cystic fibrosis transmembrane conductance regulator is predominantly unstructured in solution."
Ostedgaard L.S., Baldursson O., Vermeer D.W., Welsh M.J., Robertson A.D.
Proc. Natl. Acad. Sci. U.S.A. 97:5657-5662(2000) [PubMed] [Europe PMC] [Abstract]Cited for: DOMAIN, FUNCTION, SUBCELLULAR LOCATION, PHOSPHORYLATION. - Ref.11"A monomer is the minimum functional unit required for channel and ATPase activity of the cystic fibrosis transmembrane conductance regulator."
Ramjeesingh M., Li C., Kogan I., Wang Y., Huan L.J., Bear C.E.
Biochemistry 40:10700-10706(2001) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, CATALYTIC ACTIVITY, SUBCELLULAR LOCATION, SUBUNIT. - Ref.12"A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression."
Cheng J., Moyer B.D., Milewski M., Loffing J., Ikeda M., Mickle J.E., Cutting G.R., Li M., Stanton B.A., Guggino W.B.
J. Biol. Chem. 277:3520-3529(2002) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH GOPC, FUNCTION, SUBCELLULAR LOCATION. - Ref.13"The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3-cotransport isoform 3."
Park M., Ko S.B.H., Choi J.Y., Muallem G., Thomas P.J., Pushkin A., Lee M.-S., Kim J.Y., Lee M.G., Muallem S., Kurtz I.
J. Biol. Chem. 277:50503-50509(2002) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH SLC4A7 AND SLC9A3R1, FUNCTION. - Ref.14"Physiological modulation of CFTR activity by AMP-activated protein kinase in polarized T84 cells."
Hallows K.R., Kobinger G.P., Wilson J.M., Witters L.A., Foskett J.K.
Am. J. Physiol. 284:C1297-C1308(2003) [PubMed] [Europe PMC] [Abstract]Cited for: PHOSPHORYLATION BY AMPK, FUNCTION, SUBCELLULAR LOCATION. - Ref.15"Dynamic control of cystic fibrosis transmembrane conductance regulator Cl(-)/HCO3(-) selectivity by external Cl(-)."
Shcheynikov N., Kim K.H., Kim K.M., Dorwart M.R., Ko S.B., Goto H., Naruse S., Thomas P.J., Muallem S.
J. Biol. Chem. 279:21857-21865(2004) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION. - Ref.19"Phosphorylation of protein kinase C sites in NBD1 and the R domain control CFTR channel activation by PKA."
Chappe V., Hinkson D.A., Zhu T., Chang X.B., Riordan J.R., Hanrahan J.W.
J. Physiol. (Lond.) 548:39-52(2003) [PubMed] [Europe PMC] [Abstract]Cited for: CHANNEL GATING REGULATION, PHOSPHORYLATION, FUNCTION, SUBCELLULAR LOCATION. - Ref.20"Abnormal surface liquid pH regulation by cultured cystic fibrosis bronchial epithelium."
Coakley R.D., Grubb B.R., Paradiso A.M., Gatzy J.T., Johnson L.G., Kreda S.M., O'Neal W.K., Boucher R.C.
Proc. Natl. Acad. Sci. U.S.A. 100:16083-16088(2003) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION. - Ref.22"Ion and fluid transport properties of small airways in cystic fibrosis."
Blouquit S., Regnier A., Dannhoffer L., Fermanian C., Naline E., Boucher R., Chinet T.
Am. J. Respir. Crit. Care Med. 174:299-305(2006) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION. - Ref.23"In vivo phosphorylation of CFTR promotes formation of a nucleotide-binding domain heterodimer."
Mense M., Vergani P., White D.M., Altberg G., Nairn A.C., Gadsby D.C.
EMBO J. 25:4728-4739(2006) [PubMed] [Europe PMC] [Abstract]Cited for: DOMAIN, PHOSPHORYLATION, SUBCELLULAR LOCATION, FUNCTION. - Ref.27"The deubiquitinating enzyme USP10 regulates the post-endocytic sorting of cystic fibrosis transmembrane conductance regulator in airway epithelial cells."
Bomberger J.M., Barnaby R.L., Stanton B.A.
J. Biol. Chem. 284:18778-18789(2009) [PubMed] [Europe PMC] [Abstract]Cited for: UBIQUITINATION, SUBCELLULAR LOCATION, FUNCTION. - Ref.28"Mechanism of direct bicarbonate transport by the CFTR anion channel."
Tang L., Fatehi M., Linsdell P.
J. Cyst. Fibros. 8:115-121(2009) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION. - Ref.29"CFTR delivery to 25% of surface epithelial cells restores normal rates of mucus transport to human cystic fibrosis airway epithelium."
Zhang L., Button B., Gabriel S.E., Burkett S., Yan Y., Skiadopoulos M.H., Dang Y.L., Vogel L.N., McKay T., Mengos A., Boucher R.C., Collins P.L., Pickles R.J.
PLoS Biol. 7:E1000155-E1000155(2009) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION. - Ref.34"CFTR and TMEM16A are separate but functionally related Cl-channels."
Ousingsawat J., Kongsuphol P., Schreiber R., Kunzelmann K.
Cell. Physiol. Biochem. 28:715-724(2011) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH ANO1. - Ref.39"The major cystic fibrosis causing mutation exhibits defective propensity for phosphorylation."
Pasyk S., Molinski S., Ahmadi S., Ramjeesingh M., Huan L.J., Chin S., Du K., Yeger H., Taylor P., Moran M.F., Bear C.E.
Proteomics 15:447-461(2015) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, CHARACTERIZATION OF CF VARIANT PHE-508 DEL, SUBCELLULAR LOCATION, PHOSPHORYLATION AT SER-660; SER-670; SER-700; SER-712; SER-737; SER-753; SER-768; SER-795 AND SER-813, IDENTIFICATION BY MASS SPECTROMETRY. - Ref.40"Channel gating regulation by the cystic fibrosis transmembrane conductance regulator (CFTR) first cytosolic loop."
Ehrhardt A., Chung W.J., Pyle L.C., Wang W., Nowotarski K., Mulvihill C.M., Ramjeesingh M., Hong J., Velu S.E., Lewis H.A., Atwell S., Aller S., Bear C.E., Lukacs G.L., Kirk K.L., Sorscher E.J.
J. Biol. Chem. 291:1854-1865(2016) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, FUNCTION. - Ref.41"Airway acidification initiates host defense abnormalities in cystic fibrosis mice."
Shah V.S., Meyerholz D.K., Tang X.X., Reznikov L., Abou Alaiwa M., Ernst S.E., Karp P.H., Wohlford-Lenane C.L., Heilmann K.P., Leidinger M.R., Allen P.D., Zabner J., McCray P.B. Jr., Ostedgaard L.S., Stoltz D.A., Randak C.O., Welsh M.J.
Science 351:503-507(2016) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION. - Ref.42"deltabetagamma-ENaC is inhibited by CFTR but stimulated by cAMP in Xenopus laevis oocytes."
Rauh R., Hoerner C., Korbmacher C.
Am. J. Physiol. 312:L277-L287(2017) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION. - Ref.44"Essential role of CFTR in PKA-dependent phosphorylation, alkalinization, and hyperpolarization during human sperm capacitation."
Puga Molina L.C., Pinto N.A., Torres Rodriguez P., Romarowski A., Vicens Sanchez A., Visconti P.E., Darszon A., Trevino C.L., Buffone M.G.
J. Cell. Physiol. 232:1404-1414(2017) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION. - Ref.60"Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2."
Gregory R.J., Rich D.P., Cheng S.H., Souza D.W., Paul S., Manavalan P., Anderson M.P., Welsh M.J., Smith A.E.
Mol. Cell. Biol. 11:3886-3893(1991) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF CF VARIANTS ILE-507 DEL; PHE-508 DEL; ILE-549; ARG-549; ASP-551; THR-559; ASN-572; LYS-1303 AND ASP-1349, FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF PHE-508. - Ref.96"ATPase activity of the cystic fibrosis transmembrane conductance regulator."
Li C., Ramjeesingh M., Wang W., Garami E., Hewryk M., Lee D., Rommens J.M., Galley K., Bear C.E.
J. Biol. Chem. 271:28463-28468(1996) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF ASP-551, CATALYTIC ACTIVITY, FUNCTION, SUBCELLULAR LOCATION, PHOSPHORYLATION. - Ref.103"Characterization of mutations located in exon 18 of the CFTR gene."
Vankeerberghen A., Wei L., Teng H., Jaspers M., Cassiman J.J., Nilius B., Cuppens H.
FEBS Lett. 437:1-4(1998) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS CF VAL-1137; MET-1140 DEL AND HIS-1152, MUTAGENESIS OF MET-1137; ILE-1139 AND ASP-1154, SUBCELLULAR LOCATION, FUNCTION. - Ref.118"A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates."
Silvis M.R., Picciano J.A., Bertrand C., Weixel K., Bridges R.J., Bradbury N.A.
J. Biol. Chem. 278:11554-11560(2003) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF TYR-287 AND PHE-508 DEL, SUBCELLULAR LOCATION, FUNCTION, GLYCOSYLATION. - Ref.122"Regulatory interactions of N1303K-CFTR and ENaC in Xenopus oocytes: evidence that chloride transport is not necessary for inhibition of ENaC."
Suaud L., Yan W., Carattino M.D., Robay A., Kleyman T.R., Rubenstein R.C.
Am. J. Physiol. 292:C1553-C1561(2007) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF LYS-1303, FUNCTION, SUBCELLULAR LOCATION. - Ref.126"On the mechanism of gating defects caused by the R117H mutation in cystic fibrosis transmembrane conductance regulator."
Yu Y.C., Sohma Y., Hwang T.C.
J. Physiol. (Lond.) 594:3227-3244(2016) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF HIS-117, FUNCTION, SUBCELLULAR LOCATION. - Ref.128"Two small molecules restore stability to a sub-population of the cystic fibrosis transmembrane conductance regulator with the predominant disease-causing mutation."
Meng X., Wang Y., Wang X., Wrennall J.A., Rimington T.L., Li H., Cai Z., Ford R.C., Sheppard D.N.
J. Biol. Chem. 292:3706-3719(2017) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS CF PHE-508 DEL AND ASP-551, SUBCELLULAR LOCATION, FUNCTION.
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. the chemical reaction it catalyzes. This information usually correlates with the presence of an EC (Enzyme Commission) number in the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi
ATP + H2O = ADP + phosphate.4 Publications
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.11"A monomer is the minimum functional unit required for channel and ATPase activity of the cystic fibrosis transmembrane conductance regulator."
Ramjeesingh M., Li C., Kogan I., Wang Y., Huan L.J., Bear C.E.
Biochemistry 40:10700-10706(2001) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, CATALYTIC ACTIVITY, SUBCELLULAR LOCATION, SUBUNIT. - Ref.21"A heteromeric complex of the two nucleotide binding domains of cystic fibrosis transmembrane conductance regulator (CFTR) mediates ATPase activity."
Kidd J.F., Ramjeesingh M., Stratford F., Huan L.J., Bear C.E.
J. Biol. Chem. 279:41664-41669(2004) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, DOMAIN. - Ref.40"Channel gating regulation by the cystic fibrosis transmembrane conductance regulator (CFTR) first cytosolic loop."
Ehrhardt A., Chung W.J., Pyle L.C., Wang W., Nowotarski K., Mulvihill C.M., Ramjeesingh M., Hong J., Velu S.E., Lewis H.A., Atwell S., Aller S., Bear C.E., Lukacs G.L., Kirk K.L., Sorscher E.J.
J. Biol. Chem. 291:1854-1865(2016) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, FUNCTION. - Ref.96"ATPase activity of the cystic fibrosis transmembrane conductance regulator."
Li C., Ramjeesingh M., Wang W., Garami E., Hewryk M., Lee D., Rommens J.M., Galley K., Bear C.E.
J. Biol. Chem. 271:28463-28468(1996) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF ASP-551, CATALYTIC ACTIVITY, FUNCTION, SUBCELLULAR LOCATION, PHOSPHORYLATION.
Sites
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei | 401 | ATP 1Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 2 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei | 434 | ATP 1Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 1 Publication<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei | 493 | ATP 1Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 1 Publication<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei | 1219 | ATP 2Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 1 |
Regions
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi | 458 – 465 | ATP 1PROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Combined sources<p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 1 Publication<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 8 | |
| <p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi | 1244 – 1251 | ATP 2PROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Combined sources<p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 8 |
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- ATPase activity Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- ATPase activity, coupled to transmembrane movement of substances Source: GO_Central
- ATPase-coupled anion transmembrane transporter activity Source: Reactome
- ATP binding Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- bicarbonate transmembrane transporter activity Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- chaperone binding Source: ARUK-UCL <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- chloride channel activity Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- chloride channel inhibitor activity Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- chloride channel regulator activity Source: Reactome
- chloride transmembrane transporter activity Source: UniProtKB
- enzyme binding Source: UniProtKB <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- intracellularly ATP-gated chloride channel activity Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- PDZ domain binding Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi
- bicarbonate transport Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- cellular response to cAMP Source: UniProtKB
- cellular response to forskolin Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- chloride transmembrane transport Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- cholesterol biosynthetic process Source: Ensembl
- cholesterol transport Source: Ensembl
- intracellular pH elevation Source: UniProtKB
- membrane hyperpolarization Source: UniProtKB
- membrane organization Source: Reactome
- multicellular organismal water homeostasis Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- positive regulation of cyclic nucleotide-gated ion channel activity Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- positive regulation of exocytosis Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- positive regulation of insulin secretion involved in cellular response to glucose stimulus Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- positive regulation of voltage-gated chloride channel activity Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- protein deubiquitination Source: Reactome
- sperm capacitation Source: UniProtKB
- transepithelial water transport Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- transmembrane transport Source: Reactome
- vesicle docking involved in exocytosis Source: Ensembl
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi
| Molecular function | Chloride channel, Hydrolase, Ion channel |
| Biological process | Ion transport, Transport |
| Ligand | ATP-binding, Chloride, Nucleotide-binding |
Enzyme and pathway databases
BioCyc Collection of Pathway/Genome Databases More...BioCyci | MetaCyc:HS00075-MONOMER |
BRENDA Comprehensive Enzyme Information System More...BRENDAi | 3.6.3.49 2681 |
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-382556 ABC-family proteins mediated transport R-HSA-5627083 RHO GTPases regulate CFTR trafficking R-HSA-5678895 Defective CFTR causes cystic fibrosis R-HSA-5689880 Ub-specific processing proteases R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis R-HSA-8856828 Clathrin-mediated endocytosis |
SIGNOR Signaling Network Open Resource More...SIGNORi | P13569 |
Protein family/group databases
MoonProt database of moonlighting proteins More...MoonProti | P13569 |
Transport Classification Database More...TCDBi | 3.A.1.202.1 the atp-binding cassette (abc) superfamily |
<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi | Recommended name: Cystic fibrosis transmembrane conductance regulatorShort name: CFTR Alternative name(s): ATP-binding cassette sub-family C member 7 Channel conductance-controlling ATPase (EC:3.6.3.494 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
cAMP-dependent chloride channel |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi | Name:CFTR Synonyms:ABCC7 |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>Organismi | Homo sapiens (Human) |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri | 9606 [NCBI] |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi |
|
Organism-specific databases
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000001626.14 |
Human Gene Nomenclature Database More...HGNCi | HGNC:1884 CFTR |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 602421 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_P13569 |
<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi
Nucleus
- Nucleus By similarity
<p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi
- Nucleus By similarity
Endosome
- Early endosome membrane 2 Publications
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.27"The deubiquitinating enzyme USP10 regulates the post-endocytic sorting of cystic fibrosis transmembrane conductance regulator in airway epithelial cells."
Bomberger J.M., Barnaby R.L., Stanton B.A.
J. Biol. Chem. 284:18778-18789(2009) [PubMed] [Europe PMC] [Abstract]Cited for: UBIQUITINATION, SUBCELLULAR LOCATION, FUNCTION. - Ref.31"Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures."
Cholon D.M., O'Neal W.K., Randell S.H., Riordan J.R., Gentzsch M.
Am. J. Physiol. 298:L304-L314(2010) [PubMed] [Europe PMC] [Abstract]Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT CF PHE-508 DEL, MUTAGENESIS OF ASN-894 AND ASN-900, GLYCOSYLATION AT ASN-894 AND ASN-900.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Recycling endosome membrane 1 Publication
<p>Manually curated information which has been inferred by a curator based on his/her scientific knowledge or on the scientific content of an article.</p> <p><a href="/manual/evidences#ECO:0000305">More...</a></p> Manual assertion inferred by curator fromi
- Ref.24"Myosin Vb is required for trafficking of the cystic fibrosis transmembrane conductance regulator in Rab11a-specific apical recycling endosomes in polarized human airway epithelial cells."
Swiatecka-Urban A., Talebian L., Kanno E., Moreau-Marquis S., Coutermarsh B., Hansen K., Karlson K.H., Barnaby R., Cheney R.E., Langford G.M., Fukuda M., Stanton B.A.
J. Biol. Chem. 282:23725-23736(2007) [PubMed] [Europe PMC] [Abstract]Cited for: IDENTIFICATION IN A COMPLEX WITH RAB11A AND MYO5B, SUBCELLULAR LOCATION.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Early endosome membrane 2 Publications
Endoplasmic reticulum
- Endoplasmic reticulum membrane 2 Publications
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.12"A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression."
Cheng J., Moyer B.D., Milewski M., Loffing J., Ikeda M., Mickle J.E., Cutting G.R., Li M., Stanton B.A., Guggino W.B.
J. Biol. Chem. 277:3520-3529(2002) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH GOPC, FUNCTION, SUBCELLULAR LOCATION. - Ref.39"The major cystic fibrosis causing mutation exhibits defective propensity for phosphorylation."
Pasyk S., Molinski S., Ahmadi S., Ramjeesingh M., Huan L.J., Chin S., Du K., Yeger H., Taylor P., Moran M.F., Bear C.E.
Proteomics 15:447-461(2015) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, CHARACTERIZATION OF CF VARIANT PHE-508 DEL, SUBCELLULAR LOCATION, PHOSPHORYLATION AT SER-660; SER-670; SER-700; SER-712; SER-737; SER-753; SER-768; SER-795 AND SER-813, IDENTIFICATION BY MASS SPECTROMETRY.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Endoplasmic reticulum membrane 2 Publications
Plasma membrane
- Apical cell membrane 11 Publications
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.14"Physiological modulation of CFTR activity by AMP-activated protein kinase in polarized T84 cells."
Hallows K.R., Kobinger G.P., Wilson J.M., Witters L.A., Foskett J.K.
Am. J. Physiol. 284:C1297-C1308(2003) [PubMed] [Europe PMC] [Abstract]Cited for: PHOSPHORYLATION BY AMPK, FUNCTION, SUBCELLULAR LOCATION. - Ref.16"Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulator."
Swiatecka-Urban A., Boyd C., Coutermarsh B., Karlson K.H., Barnaby R., Aschenbrenner L., Langford G.M., Hasson T., Stanton B.A.
J. Biol. Chem. 279:38025-38031(2004) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH MYO6, SUBCELLULAR LOCATION. - Ref.24"Myosin Vb is required for trafficking of the cystic fibrosis transmembrane conductance regulator in Rab11a-specific apical recycling endosomes in polarized human airway epithelial cells."
Swiatecka-Urban A., Talebian L., Kanno E., Moreau-Marquis S., Coutermarsh B., Hansen K., Karlson K.H., Barnaby R., Cheney R.E., Langford G.M., Fukuda M., Stanton B.A.
J. Biol. Chem. 282:23725-23736(2007) [PubMed] [Europe PMC] [Abstract]Cited for: IDENTIFICATION IN A COMPLEX WITH RAB11A AND MYO5B, SUBCELLULAR LOCATION. - Ref.27"The deubiquitinating enzyme USP10 regulates the post-endocytic sorting of cystic fibrosis transmembrane conductance regulator in airway epithelial cells."
Bomberger J.M., Barnaby R.L., Stanton B.A.
J. Biol. Chem. 284:18778-18789(2009) [PubMed] [Europe PMC] [Abstract]Cited for: UBIQUITINATION, SUBCELLULAR LOCATION, FUNCTION. - Ref.29"CFTR delivery to 25% of surface epithelial cells restores normal rates of mucus transport to human cystic fibrosis airway epithelium."
Zhang L., Button B., Gabriel S.E., Burkett S., Yan Y., Skiadopoulos M.H., Dang Y.L., Vogel L.N., McKay T., Mengos A., Boucher R.C., Collins P.L., Pickles R.J.
PLoS Biol. 7:E1000155-E1000155(2009) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION. - Ref.31"Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures."
Cholon D.M., O'Neal W.K., Randell S.H., Riordan J.R., Gentzsch M.
Am. J. Physiol. 298:L304-L314(2010) [PubMed] [Europe PMC] [Abstract]Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT CF PHE-508 DEL, MUTAGENESIS OF ASN-894 AND ASN-900, GLYCOSYLATION AT ASN-894 AND ASN-900. - Ref.35"Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways."
Enuka Y., Hanukoglu I., Edelheit O., Vaknine H., Hanukoglu A.
Histochem. Cell Biol. 137:339-353(2012) [PubMed] [Europe PMC] [Abstract]Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY. - Ref.43"Expression of epithelial sodium channel (ENaC) and CFTR in the human epidermis and epidermal appendages."
Hanukoglu I., Boggula V.R., Vaknine H., Sharma S., Kleyman T., Hanukoglu A.
Histochem. Cell Biol. 147:733-748(2017) [PubMed] [Europe PMC] [Abstract]Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY. - Ref.66"Mislocalization of delta F508 CFTR in cystic fibrosis sweat gland."
Kartner N., Augustinas O., Jensen T.J., Naismith A.L., Riordan J.R.
Nat. Genet. 1:321-327(1992) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF PHE-508 DEL AND ASP-551, SUBCELLULAR LOCATION, TISSUE SPECIFICITY. - Ref.118"A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates."
Silvis M.R., Picciano J.A., Bertrand C., Weixel K., Bridges R.J., Bradbury N.A.
J. Biol. Chem. 278:11554-11560(2003) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF TYR-287 AND PHE-508 DEL, SUBCELLULAR LOCATION, FUNCTION, GLYCOSYLATION. - Ref.119"Characterization of wild-type and deltaF508 cystic fibrosis transmembrane regulator in human respiratory epithelia."
Kreda S.M., Mall M., Mengos A., Rochelle L., Yankaskas J., Riordan J.R., Boucher R.C.
Mol. Biol. Cell 16:2154-2167(2005) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF PHE-508 DEL, SUBCELLULAR LOCATION, FUNCTION, TISSUE SPECIFICITY.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Cell membrane 1 Publication
<p>Manually curated information which has been inferred by a curator based on his/her scientific knowledge or on the scientific content of an article.</p> <p><a href="/manual/evidences#ECO:0000305">More...</a></p> Manual assertion inferred by curator fromi
- Ref.96"ATPase activity of the cystic fibrosis transmembrane conductance regulator."
Li C., Ramjeesingh M., Wang W., Garami E., Hewryk M., Lee D., Rommens J.M., Galley K., Bear C.E.
J. Biol. Chem. 271:28463-28468(1996) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF ASP-551, CATALYTIC ACTIVITY, FUNCTION, SUBCELLULAR LOCATION, PHOSPHORYLATION.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.10"A functional R domain from cystic fibrosis transmembrane conductance regulator is predominantly unstructured in solution."
Ostedgaard L.S., Baldursson O., Vermeer D.W., Welsh M.J., Robertson A.D.
Proc. Natl. Acad. Sci. U.S.A. 97:5657-5662(2000) [PubMed] [Europe PMC] [Abstract]Cited for: DOMAIN, FUNCTION, SUBCELLULAR LOCATION, PHOSPHORYLATION. - Ref.11"A monomer is the minimum functional unit required for channel and ATPase activity of the cystic fibrosis transmembrane conductance regulator."
Ramjeesingh M., Li C., Kogan I., Wang Y., Huan L.J., Bear C.E.
Biochemistry 40:10700-10706(2001) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, CATALYTIC ACTIVITY, SUBCELLULAR LOCATION, SUBUNIT. - Ref.12"A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression."
Cheng J., Moyer B.D., Milewski M., Loffing J., Ikeda M., Mickle J.E., Cutting G.R., Li M., Stanton B.A., Guggino W.B.
J. Biol. Chem. 277:3520-3529(2002) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH GOPC, FUNCTION, SUBCELLULAR LOCATION. - Ref.15"Dynamic control of cystic fibrosis transmembrane conductance regulator Cl(-)/HCO3(-) selectivity by external Cl(-)."
Shcheynikov N., Kim K.H., Kim K.M., Dorwart M.R., Ko S.B., Goto H., Naruse S., Thomas P.J., Muallem S.
J. Biol. Chem. 279:21857-21865(2004) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION. - Ref.19"Phosphorylation of protein kinase C sites in NBD1 and the R domain control CFTR channel activation by PKA."
Chappe V., Hinkson D.A., Zhu T., Chang X.B., Riordan J.R., Hanrahan J.W.
J. Physiol. (Lond.) 548:39-52(2003) [PubMed] [Europe PMC] [Abstract]Cited for: CHANNEL GATING REGULATION, PHOSPHORYLATION, FUNCTION, SUBCELLULAR LOCATION. - Ref.23"In vivo phosphorylation of CFTR promotes formation of a nucleotide-binding domain heterodimer."
Mense M., Vergani P., White D.M., Altberg G., Nairn A.C., Gadsby D.C.
EMBO J. 25:4728-4739(2006) [PubMed] [Europe PMC] [Abstract]Cited for: DOMAIN, PHOSPHORYLATION, SUBCELLULAR LOCATION, FUNCTION. - Ref.27"The deubiquitinating enzyme USP10 regulates the post-endocytic sorting of cystic fibrosis transmembrane conductance regulator in airway epithelial cells."
Bomberger J.M., Barnaby R.L., Stanton B.A.
J. Biol. Chem. 284:18778-18789(2009) [PubMed] [Europe PMC] [Abstract]Cited for: UBIQUITINATION, SUBCELLULAR LOCATION, FUNCTION. - Ref.28"Mechanism of direct bicarbonate transport by the CFTR anion channel."
Tang L., Fatehi M., Linsdell P.
J. Cyst. Fibros. 8:115-121(2009) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION. - Ref.34"CFTR and TMEM16A are separate but functionally related Cl-channels."
Ousingsawat J., Kongsuphol P., Schreiber R., Kunzelmann K.
Cell. Physiol. Biochem. 28:715-724(2011) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH ANO1. - Ref.39"The major cystic fibrosis causing mutation exhibits defective propensity for phosphorylation."
Pasyk S., Molinski S., Ahmadi S., Ramjeesingh M., Huan L.J., Chin S., Du K., Yeger H., Taylor P., Moran M.F., Bear C.E.
Proteomics 15:447-461(2015) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, CHARACTERIZATION OF CF VARIANT PHE-508 DEL, SUBCELLULAR LOCATION, PHOSPHORYLATION AT SER-660; SER-670; SER-700; SER-712; SER-737; SER-753; SER-768; SER-795 AND SER-813, IDENTIFICATION BY MASS SPECTROMETRY. - Ref.43"Expression of epithelial sodium channel (ENaC) and CFTR in the human epidermis and epidermal appendages."
Hanukoglu I., Boggula V.R., Vaknine H., Sharma S., Kleyman T., Hanukoglu A.
Histochem. Cell Biol. 147:733-748(2017) [PubMed] [Europe PMC] [Abstract]Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY. - Ref.60"Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2."
Gregory R.J., Rich D.P., Cheng S.H., Souza D.W., Paul S., Manavalan P., Anderson M.P., Welsh M.J., Smith A.E.
Mol. Cell. Biol. 11:3886-3893(1991) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF CF VARIANTS ILE-507 DEL; PHE-508 DEL; ILE-549; ARG-549; ASP-551; THR-559; ASN-572; LYS-1303 AND ASP-1349, FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF PHE-508. - Ref.103"Characterization of mutations located in exon 18 of the CFTR gene."
Vankeerberghen A., Wei L., Teng H., Jaspers M., Cassiman J.J., Nilius B., Cuppens H.
FEBS Lett. 437:1-4(1998) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS CF VAL-1137; MET-1140 DEL AND HIS-1152, MUTAGENESIS OF MET-1137; ILE-1139 AND ASP-1154, SUBCELLULAR LOCATION, FUNCTION. - Ref.122"Regulatory interactions of N1303K-CFTR and ENaC in Xenopus oocytes: evidence that chloride transport is not necessary for inhibition of ENaC."
Suaud L., Yan W., Carattino M.D., Robay A., Kleyman T.R., Rubenstein R.C.
Am. J. Physiol. 292:C1553-C1561(2007) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF LYS-1303, FUNCTION, SUBCELLULAR LOCATION. - Ref.126"On the mechanism of gating defects caused by the R117H mutation in cystic fibrosis transmembrane conductance regulator."
Yu Y.C., Sohma Y., Hwang T.C.
J. Physiol. (Lond.) 594:3227-3244(2016) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF HIS-117, FUNCTION, SUBCELLULAR LOCATION. - Ref.127"Direct measurement of trafficking of the cystic fibrosis transmembrane conductance regulator to the cell surface and binding to a chemical chaperone."
Zhang Z., Baksh M.M., Finn M.G., Heidary D.K., Richards C.I.
Biochemistry 56:240-249(2017) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF PHE-508 DEL, SUBCELLULAR LOCATION, MUTAGENESIS OF ILE-539. - Ref.128"Two small molecules restore stability to a sub-population of the cystic fibrosis transmembrane conductance regulator with the predominant disease-causing mutation."
Meng X., Wang Y., Wang X., Wrennall J.A., Rimington T.L., Li H., Cai Z., Ford R.C., Sheppard D.N.
J. Biol. Chem. 292:3706-3719(2017) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS CF PHE-508 DEL AND ASP-551, SUBCELLULAR LOCATION, FUNCTION.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
Note: The channel is internalized from the cell surface into an endosomal recycling compartment, from where it is recycled to the cell membrane (PubMed:17462998, PubMed:19398555, PubMed:20008117). In the oviduct and bronchus, detected on the apical side of epithelial cells, but not associated with cilia (PubMed:22207244). In Sertoli cells, a processed product is detected in the nucleus (By similarity).By similarity- Apical cell membrane 11 Publications
- Ref.24"Myosin Vb is required for trafficking of the cystic fibrosis transmembrane conductance regulator in Rab11a-specific apical recycling endosomes in polarized human airway epithelial cells."
Swiatecka-Urban A., Talebian L., Kanno E., Moreau-Marquis S., Coutermarsh B., Hansen K., Karlson K.H., Barnaby R., Cheney R.E., Langford G.M., Fukuda M., Stanton B.A.
J. Biol. Chem. 282:23725-23736(2007) [PubMed] [Europe PMC] [Abstract]Cited for: IDENTIFICATION IN A COMPLEX WITH RAB11A AND MYO5B, SUBCELLULAR LOCATION. - Ref.27"The deubiquitinating enzyme USP10 regulates the post-endocytic sorting of cystic fibrosis transmembrane conductance regulator in airway epithelial cells."
Bomberger J.M., Barnaby R.L., Stanton B.A.
J. Biol. Chem. 284:18778-18789(2009) [PubMed] [Europe PMC] [Abstract]Cited for: UBIQUITINATION, SUBCELLULAR LOCATION, FUNCTION. - Ref.31"Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures."
Cholon D.M., O'Neal W.K., Randell S.H., Riordan J.R., Gentzsch M.
Am. J. Physiol. 298:L304-L314(2010) [PubMed] [Europe PMC] [Abstract]Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT CF PHE-508 DEL, MUTAGENESIS OF ASN-894 AND ASN-900, GLYCOSYLATION AT ASN-894 AND ASN-900. - Ref.35"Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways."
Enuka Y., Hanukoglu I., Edelheit O., Vaknine H., Hanukoglu A.
Histochem. Cell Biol. 137:339-353(2012) [PubMed] [Europe PMC] [Abstract]Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
<p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi
1 Publication<p>Manually curated information which has been inferred by a curator based on his/her scientific knowledge or on the scientific content of an article.</p> <p><a href="/manual/evidences#ECO:0000305">More...</a></p> Manual assertion inferred by curator fromi
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
Cytosol
- cytosol Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
Endosome
- early endosome Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- early endosome membrane Source: UniProtKB-SubCell
- endosome membrane Source: Reactome
- recycling endosome Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- recycling endosome membrane Source: UniProtKB-SubCell
Lysosome
- lysosomal membrane Source: Reactome
Nucleus
- nucleus Source: UniProtKB
Plasma Membrane
- apical plasma membrane Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- integral component of plasma membrane Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- plasma membrane Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
Other locations
- cell surface Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- chloride channel complex Source: UniProtKB-KW
- clathrin-coated vesicle membrane Source: Reactome
- cytoplasm Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- Golgi-associated vesicle membrane Source: Reactome
- integral component of membrane Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- protein-containing complex Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
Topology
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 1 – 77 | CytoplasmicCuratedAdd BLAST | 77 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 78 – 98 | Helical; Name=11 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 21 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 99 – 122 | Extracellular1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 24 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 123 – 146 | Helical; Name=21 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 24 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 147 – 195 | Cytoplasmic1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 49 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 196 – 216 | Helical; Name=31 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 21 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 217 – 222 | Extracellular1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 6 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 223 – 243 | Helical; Name=41 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 21 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 244 – 298 | Cytoplasmic1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 55 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 299 – 319 | Helical; Name=51 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 21 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 320 – 339 | Extracellular1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 20 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 340 – 358 | Helical; Name=61 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 19 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 359 – 858 | Cytoplasmic1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 500 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 859 – 879 | Helical; Name=71 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 21 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 880 – 918 | Extracellular1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 39 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 919 – 939 | Discontinuously helical; Name=81 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 21 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 940 – 990 | Cytoplasmic1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 51 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 991 – 1011 | Helical; Name=91 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 21 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 1012 – 1013 | Extracellular1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 2 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 1014 – 1034 | Helical; Name=101 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 21 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 1035 – 1095 | Cytoplasmic1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 61 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 1096 – 1116 | Helical; Name=111 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 21 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 1117 – 1130 | Extracellular1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 14 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 1131 – 1151 | Helical; Name=121 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 21 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 1152 – 1480 | Cytoplasmic1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 329 |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti
Cell membrane, Endoplasmic reticulum, Endosome, Membrane, Nucleus<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi
<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei
Cystic fibrosis (CF)70 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.31"Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures."
Cholon D.M., O'Neal W.K., Randell S.H., Riordan J.R., Gentzsch M.
Am. J. Physiol. 298:L304-L314(2010) [PubMed] [Europe PMC] [Abstract]Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT CF PHE-508 DEL, MUTAGENESIS OF ASN-894 AND ASN-900, GLYCOSYLATION AT ASN-894 AND ASN-900. - Ref.39"The major cystic fibrosis causing mutation exhibits defective propensity for phosphorylation."
Pasyk S., Molinski S., Ahmadi S., Ramjeesingh M., Huan L.J., Chin S., Du K., Yeger H., Taylor P., Moran M.F., Bear C.E.
Proteomics 15:447-461(2015) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, CHARACTERIZATION OF CF VARIANT PHE-508 DEL, SUBCELLULAR LOCATION, PHOSPHORYLATION AT SER-660; SER-670; SER-700; SER-712; SER-737; SER-753; SER-768; SER-795 AND SER-813, IDENTIFICATION BY MASS SPECTROMETRY. - Ref.48"Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure."
Lewis H.A., Zhao X., Wang C., Sauder J.M., Rooney I., Noland B.W., Lorimer D., Kearins M.C., Conners K., Condon B., Maloney P.C., Guggino W.B., Hunt J.F., Emtage S.
J. Biol. Chem. 280:1346-1353(2005) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (2.25 ANGSTROMS) OF 389-678 OF WILD-TYPE AND VARIANT CF PHE-508 DEL IN COMPLEX WITH ATP, CHARACTERIZATION OF VARIANT CF PHE-508 DEL. - Ref.51"Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant."
Atwell S., Brouillette C.G., Conners K., Emtage S., Gheyi T., Guggino W.B., Hendle J., Hunt J.F., Lewis H.A., Lu F., Protasevich I.I., Rodgers L.A., Romero R., Wasserman S.R., Weber P.C., Wetmore D., Zhang F.F., Zhao X.
Protein Eng. Des. Sel. 23:375-384(2010) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.70 ANGSTROMS) OF 387-646 IN COMPLEX WITH ATP, CHARACTERIZATION OF VARIANT CF PHE-508 DEL. - Ref.56"Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis."
Cheng S.H., Gregory R.J., Marshall J., Paul S., Souza D.W., White G.A., O'Riordan C.R., Smith A.E.
Cell 63:827-834(1990) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF TRP-334; ILE-507 DEL; PHE-508 DEL; ASP-551 AND ILE-549, MUTAGENESIS OF LYS-464; PHE-508 AND LYS-1250, GLYCOSYLATION. - Ref.57"A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein."
Cutting G.R., Kasch L.M., Rosenstein B.J., Zielenski J., Tsui L.-C., Antonarakis S.E., Kazazian H.H. Jr.
Nature 346:366-369(1990) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CF. - Ref.58"Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene."
Kerem B.-S., Zielenski J., Markiewicz D., Bozon D., Gazit E., Yahav J., Kennedy D., Riordan J.R., Collins F.S., Rommens J.M., Tsui L.-C.
Proc. Natl. Acad. Sci. U.S.A. 87:8447-8451(1990) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CF. - Ref.59"Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT)."
White M.B., Krueger L.J., Holsclaw D.S. Jr., Gerrard B.C., Stewart C., Quittell L., Dolganov G., Baranov V., Ivaschenko T., Kapronov N.I., Sebastio G., Castiglione O., Dean M.
Genomics 10:266-269(1991) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CF. - Ref.60"Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2."
Gregory R.J., Rich D.P., Cheng S.H., Souza D.W., Paul S., Manavalan P., Anderson M.P., Welsh M.J., Smith A.E.
Mol. Cell. Biol. 11:3886-3893(1991) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF CF VARIANTS ILE-507 DEL; PHE-508 DEL; ILE-549; ARG-549; ASP-551; THR-559; ASN-572; LYS-1303 AND ASP-1349, FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF PHE-508. - Ref.61"Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions."
Fanen P., Ghanem N., Vidaud M., Besmond C., Martin J., Costes B., Plassa F., Goossens M.
Genomics 13:770-776(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS VAL-44; MET-470; VAL-506; CYS-508; ALA-576; CYS-668; PHE-997; THR-1027 AND LEU-1162, VARIANTS CF GLY-44; ARG-178; ARG-225; TRP-334; PHE-508 DEL; 542-GLY--LEU-1480 DEL; ASP-551; ILE-562; ARG-628; 710-LYS--LEU-1480 DEL; 846-TRP--LEU-1480 DEL; CYS-913; 1063-TRP--LEU-1480 DEL; CYS-1066; 1092-TYR--LEU-1480 DEL; 1162-ARG--LEU-1480 DEL; GLU-1200; 1282-TRP--LEU-1480 DEL AND LYS-1303. - Ref.62"Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation."
Jones C.T., McIntosh I., Keston M., Ferguson A., Brock D.J.H.
Hum. Mol. Genet. 1:11-17(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CF PHE-520 AND HIS-1291. - Ref.63"A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene."
Cheadle J.P., Meredith A.L., Al-Jader L.N.
Hum. Mol. Genet. 1:123-125(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF MET-1283. - Ref.64"A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene."
Lissens W., Bonduelle M., Malfroot A., Dab I., Liebaers I.
Hum. Mol. Genet. 1:441-442(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF PRO-1255. - Ref.65"Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP."
Shackleton S., Beards F., Harris A.
Hum. Mol. Genet. 1:439-440(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CF LYS-92 AND CYS-117. - Ref.66"Mislocalization of delta F508 CFTR in cystic fibrosis sweat gland."
Kartner N., Augustinas O., Jensen T.J., Naismith A.L., Riordan J.R.
Nat. Genet. 1:321-327(1992) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF PHE-508 DEL AND ASP-551, SUBCELLULAR LOCATION, TISSUE SPECIFICITY. - Ref.67"Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population."
Zielenski J., Fugiwara T.M., Markiewicz D., Paradis A.J., Anacleto A.I., Richards B., Schwartz R.H., Klinger K.W., Tsui L.-C., Morgan K.
Am. J. Hum. Genet. 52:609-615(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF LYS-1101. - Ref.68"Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene."
Mercier B., Lissens W., Novelli G., Kalaydjieva L., De Arce M., Kapranov N., Klain N.C., Lenoir G., Chauveau P., Lenaerts C., Rault G., Cashman S., Sangiuolo F., Audrezet M.-P., Dallapiccola B., Guillermit H., Bonduelle M., Liebaers I. , Quere I., Verlingue C., Ferec C.
Genomics 16:296-297(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CF VAL-1052; ARG-1061; LEU-1066; GLN-1070; ARG-1085 AND ARG-1101. - Ref.69"Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients."
Audrezet M.P., Novelli G., Mercier B., Sangiuolo F., Maceratesi P., Ferec C., Dallapiccola B.
Hum. Hered. 43:295-300(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF LEU-693. - Ref.70"A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype."
Nunes V., Chillon M., Doerk T., Tuemmler B., Casals T., Estivill X.
Hum. Mol. Genet. 2:79-80(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF LYS-92. - Ref.71"Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype."
Chillon M., Casals T., Nunes V., Gimenez J., Ruiz E.P., Estivill X.
Hum. Mol. Genet. 2:1741-1742(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF SER-205. - Ref.72"Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes."
Gasparini P., Marigo C., Bisceglia G., Nicolis E., Zelante L., Bombieri C., Borgo G., Pignatti P.F., Cabrini G.
Hum. Mutat. 2:389-394(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CF. - Ref.73"Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene."
Ghanem N., Costes B., Girodon E., Martin J., Fanen P., Goossens M.
Genomics 21:434-436(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CYS-31 AND ILE-1220, VARIANTS CF 890-GLN--LEU-1480 DEL; LEU-912; TYR-949; PRO-1065; PRO-1071 AND 1204-TRP--LEU-1480 DEL. - Ref.74"Novel cystic fibrosis mutation associated with mild disease in Cypriot patients."
Boteva K., Papageorgiou E., Georgiou C., Angastiniotis M., Middleton L.T., Constantinou-Deltas C.D.
Hum. Genet. 93:529-532(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF PRO-346. - Ref.75"Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients."
Doerk T., Mekus F., Schmidt K., Bosshammer J., Fislage R., Heuer T., Dziadek V., Neumann T., Kaelin N., Wulbrand U., Wulf B., von der Hardt H., Maass G., Tuemmler B.
Hum. Genet. 94:533-542(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CF TYR-199; SER-619; ARG-1005 AND ARG-1291. - Ref.76"A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene."
Greil I., Wagner K., Rosenkranz W.
Hum. Hered. 44:238-240(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF GLU-1249. - Ref.77"Identification of two new mutations (711 +3A-->G and V1397E) in CF chromosomes of Albanian and Macedonian origin."
Petreska L., Koceva S., Gordova-Muratovska A., Nestorov R., Efremov G.D.
Hum. Mol. Genet. 3:999-1000(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF GLU-1397. - Ref.78"A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR."
Schaedel C., Kristoffersson A.-C., Kornfaelt R., Holmberg L.
Hum. Mol. Genet. 3:1001-1002(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF CYS-109. - Ref.79"Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4)."
Chillon M., Casals T., Gimenez J., Nunes V., Estivill X.
Hum. Mutat. 3:223-230(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF THR-120. - Ref.80"A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene."
Bienvenu T., Petitpretz P., Beldjord C., Kaplan J.C.
Hum. Mutat. 3:395-396(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF LEU-87. - Ref.83"Mild cystic fibrosis disease in three Mexican delta-F508/G551S compound heterozygous siblings."
Orozco L., Lezana J.L., Villarreal M.T., Chavez M., Carnevale A.
Clin. Genet. 47:96-98(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF SER-551. - Ref.84"Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations."
Brancolini V., Cremonesi L., Belloni E., Pappalardo E., Bordoni R., Seia M., Russo S., Padoan R., Giunta A., Ferrari M.
Hum. Genet. 96:312-318(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CF GLY-57; LYS-193 AND GLY-579. - Ref.85"Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype."
Desgeorges M., Rodier M., Piot M., Demaille J., Claustres M.
Hum. Genet. 96:717-720(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF TRP-206. - Ref.86"Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene."
Zielenski J., Markiewicz D., Chen H.S., Schappert K.T., Seller A., Durie P., Corey M., Tsui L.-C.
Hum. Mutat. 5:43-47(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CF LEU-31 AND ARG-1098. - Ref.87"Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles."
Verlingue C., Kapranov N.I., Mercier B., Ginter E.K., Petrova N.V., Audrezet M.P., Ferec C.
Hum. Mutat. 5:205-209(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF ASN-572. - Ref.88"Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult."
Romey M.-C., Desgeorges M., Ray P., Godard P., Demaille J., Claustres M.
Hum. Mutat. 6:190-191(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF ARG-98. - Ref.89"A specific cystic fibrosis mutation (T338I) associated with the phenotype of isolated hypotonic dehydration."
Leoni G.B., Pitzalis S., Podda R., Zanda M., Silvetti M., Caocci L., Cao A., Rosatelli M.C.
J. Pediatr. 127:281-283(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF ILE-338. - Ref.90"Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients."
Ferec C., Novelli G., Verlingue C., Quere I., Dallapiccola B., Audrezet M.P., Mercier B.
Mol. Cell. Probes 9:135-137(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CF PHE-42; LEU-117; ARG-139 AND GLU-1006. - Ref.91"Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations."
Messaoud T., Verlingue C., Denamur E., Pascaud O., Quere I., Fattoum S., Elion J., Ferec C.
Eur. J. Hum. Genet. 4:20-24(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF SER-665. - Ref.92"Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure."
Nasr S.Z., Strong T.V., Mansoura M.K., Dawson D.C., Collins F.S.
Hum. Mutat. 7:151-154(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF ARG-314. - Ref.93"A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin."
Petreska L., Plaseska D., Koseva S., Stavljenic-Rukavina A., Efremov G.D.
Hum. Mutat. 7:374-375(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF CYS-569. - Ref.94"Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients."
Bienvenu T., Chertkoff L., Beldjord C., Segal E., Carniglia L., Barreiro C., Kaplan J.-C.
Hum. Mutat. 7:376-377(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF ARG-1061. - Ref.95"Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes."
Hughes D.J., Hill A.J.M., Macek M. Jr., Redmond A.O., Nevin N.C., Graham C.A.
Hum. Mutat. 8:340-347(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF LEU-562. - Ref.96"ATPase activity of the cystic fibrosis transmembrane conductance regulator."
Li C., Ramjeesingh M., Wang W., Garami E., Hewryk M., Lee D., Rommens J.M., Galley K., Bear C.E.
J. Biol. Chem. 271:28463-28468(1996) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF ASP-551, CATALYTIC ACTIVITY, FUNCTION, SUBCELLULAR LOCATION, PHOSPHORYLATION. - Ref.98"Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140."
Clavel C., Pennaforte F., Pigeon F., Verlingue C., Birembaut P., Ferec C.
Hum. Mutat. 9:368-369(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF MET-1140 DEL. - Ref.99"Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient."
Gouya L., Pascaud O., Munck A., Elion J., Denamur E.
Hum. Mutat. 10:86-87(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF ASP-141. - Ref.100"Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients."
Casals T., Pacheco P., Barreto C., Gimenez J., Ramos M.D., Pereira S., Pinheiro J.A., Cobos N., Curvelo A., Vazquez C., Rocha H., Seculi J.L., Perez E., Dapena J., Carrilho E., Duarte A., Palacio A.M., Nunes V., Lavinha J., Estivill X.
Hum. Mutat. 10:387-392(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF CYS-1066. - Ref.101"Cystic fibrosis mutation frequencies in upstate New York."
Shrimpton A.E., Borowitz D., Swender P.
Hum. Mutat. 10:436-442(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CF GLU-85; HIS-117; TYR-287; GLU-455; ASP-551; PRO-1070 AND LYS-1303. - Ref.102"Cystic fibrosis transmembrane-conductance regulator mutations among African Americans."
Friedman K.J., Leigh M.W., Czarnecki P., Feldman G.L.
Am. J. Hum. Genet. 62:195-196(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF PHE-311 DEL. - Ref.103"Characterization of mutations located in exon 18 of the CFTR gene."
Vankeerberghen A., Wei L., Teng H., Jaspers M., Cassiman J.J., Nilius B., Cuppens H.
FEBS Lett. 437:1-4(1998) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS CF VAL-1137; MET-1140 DEL AND HIS-1152, MUTAGENESIS OF MET-1137; ILE-1139 AND ASP-1154, SUBCELLULAR LOCATION, FUNCTION. - Ref.104"Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)."
Onay T., Topaloglu O., Zielenski J., Gokgoz N., Kayserili H., Camcioglu Y., Cokugras H., Akcakaya N., Apak M., Tsui L.-C., Kirdar B.
Hum. Genet. 102:224-230(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CF LEU-1013 AND ILE-1028. - Ref.105"Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease."
Bombieri C., Benetazzo M., Saccomani A., Belpinati F., Gile L.S., Luisetti M., Pignatti P.F.
Hum. Genet. 103:718-722(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CF, VARIANTS CYS-31; GLN-75; VAL-506 AND CYS-668. - Ref.106"Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator."
Vankeerberghen A., Wei L., Jaspers M., Cassiman J.-J., Nilius B., Cuppens H.
Hum. Mol. Genet. 7:1761-1769(1998) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS CF PHE-601; SER-610; THR-613; GLY-614; THR-618; SER-619; GLN-620; PRO-620; ARG-628; PRO-633 AND SER-665, CHARACTERIZATION OF VARIANT OLIGOSPERMIA ASP-622, CHARACTERIZATION OF VARIANTS CBAVD GLY-792 AND GLY-800, CHARACTERIZATION OF VARIANT THORACIC SARCOIDOSIS LYS-828. - Ref.107"Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C)."
Malone G., Haworth A., Schwarz M.J., Cuppens H., Super M.
Hum. Mutat. 11:152-157(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CF SER-560 AND ASP-569. - Ref.108"Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin."
Leoni G.B., Pitzalis S., Tonelli R., Cao A.
Hum. Mutat. 11:337-337(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CF PHE-13 AND ILE-338. - Ref.109"Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121+1G-->A in four French patients."
Feldmann D., Sardet A., Cougoureux E., Plouvier E., Fontaine J.-L., Tournier G., Aymard P.
Hum. Mutat. Suppl. 1:S78-S80(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CF PRO-117 AND ASP-192 DEL. - Ref.110"Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis."
Casals T., Ramos M.D., Gimenez J., Nadal M., Nunes V., Estivill X.
Hum. Mutat. Suppl. 1:S99-S102(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF ARG-1065. - Ref.111"A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene."
Shackleton S., Harris A.
Hum. Mutat. Suppl. 1:S156-S157(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF ASN-LYS-370 INS. - Ref.114"Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement."
Picci L., Cameran M., Olante P., Zacchello F., Scarpa M.
Hum. Mutat. 13:173-173(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF GLY-579. - Ref.115"Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis."
Choi J.Y., Muallem D., Kiselyov K., Lee M.G., Thomas P.J., Muallem S.
Nature 410:94-97(2001) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS CF HIS-117; THR-148; ARG-178; LYS-193; ASP-551; SER-551; GLN-620; VAL-648; GLY-800; TYR-949; THR-1067; GLN-1070; GLU-1244; PRO-1255 AND ASP-1349. - Ref.116"The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis."
Rohlfs E.M., Zhou Z., Sugarman E.A., Heim R.A., Pace R.G., Knowles M.R., Silverman L.M., Allitto B.A.
Genet. Med. 4:319-323(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CF THR-148; PHE-508 DEL; 890-GLN--LEU-1480 DEL; 1023-ILE-VAL-1024 DEL AND LYS-1303. - Ref.117"Variant cystic fibrosis phenotypes in the absence of CFTR mutations."
Groman J.D., Meyer M.E., Wilmott R.W., Zeitlin P.L., Cutting G.R.
N. Engl. J. Med. 347:401-407(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CF LEU-693. - Ref.118"A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates."
Silvis M.R., Picciano J.A., Bertrand C., Weixel K., Bridges R.J., Bradbury N.A.
J. Biol. Chem. 278:11554-11560(2003) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF TYR-287 AND PHE-508 DEL, SUBCELLULAR LOCATION, FUNCTION, GLYCOSYLATION. - Ref.119"Characterization of wild-type and deltaF508 cystic fibrosis transmembrane regulator in human respiratory epithelia."
Kreda S.M., Mall M., Mengos A., Rochelle L., Yankaskas J., Riordan J.R., Boucher R.C.
Mol. Biol. Cell 16:2154-2167(2005) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF PHE-508 DEL, SUBCELLULAR LOCATION, FUNCTION, TISSUE SPECIFICITY. - Ref.120"Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms."
Roxo-Rosa M., Xu Z., Schmidt A., Neto M., Cai Z., Soares C.M., Sheppard D.N., Amaral M.D.
Proc. Natl. Acad. Sci. U.S.A. 103:17891-17896(2006) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS CF PHE-508 DEL; THR-560; GLU-561 AND ILE-562. - Ref.121"Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes."
Suaud L., Yan W., Rubenstein R.C.
Am. J. Physiol. 292:C603-C611(2007) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF THR-148. - Ref.122"Regulatory interactions of N1303K-CFTR and ENaC in Xenopus oocytes: evidence that chloride transport is not necessary for inhibition of ENaC."
Suaud L., Yan W., Carattino M.D., Robay A., Kleyman T.R., Rubenstein R.C.
Am. J. Physiol. 292:C1553-C1561(2007) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF LYS-1303, FUNCTION, SUBCELLULAR LOCATION. - Ref.125"Clinical hallmarks and genetic polymorphisms in the CFTR gene contribute to the disclosure of the A1006E mutation."
Tomaiuolo A.C., Alghisi F., Petrocchi S., Surace C., Roberti M.C., Bella S., Lucidi V., Angioni A.
Clin. Invest. Med. 33:E234-E239(2010) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CF 220-GLN--LEU-1480 DEL; MET-470; PHE-508 DEL; ILE-562 AND GLU-1006. - Ref.126"On the mechanism of gating defects caused by the R117H mutation in cystic fibrosis transmembrane conductance regulator."
Yu Y.C., Sohma Y., Hwang T.C.
J. Physiol. (Lond.) 594:3227-3244(2016) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF HIS-117, FUNCTION, SUBCELLULAR LOCATION. - Ref.127"Direct measurement of trafficking of the cystic fibrosis transmembrane conductance regulator to the cell surface and binding to a chemical chaperone."
Zhang Z., Baksh M.M., Finn M.G., Heidary D.K., Richards C.I.
Biochemistry 56:240-249(2017) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT CF PHE-508 DEL, SUBCELLULAR LOCATION, MUTAGENESIS OF ILE-539. - Ref.128"Two small molecules restore stability to a sub-population of the cystic fibrosis transmembrane conductance regulator with the predominant disease-causing mutation."
Meng X., Wang Y., Wang X., Wrennall J.A., Rimington T.L., Li H., Cai Z., Ford R.C., Sheppard D.N.
J. Biol. Chem. 292:3706-3719(2017) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS CF PHE-508 DEL AND ASP-551, SUBCELLULAR LOCATION, FUNCTION.
Ref.31
"Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures."
Cholon D.M., O'Neal W.K., Randell S.H., Riordan J.R., Gentzsch M.
Am. J. Physiol. 298:L304-L314(2010) [PubMed] [Europe PMC] [Abstract]
Cholon D.M., O'Neal W.K., Randell S.H., Riordan J.R., Gentzsch M.
Am. J. Physiol. 298:L304-L314(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT CF PHE-508 DEL, MUTAGENESIS OF ASN-894 AND ASN-900, GLYCOSYLATION AT ASN-894 AND ASN-900.
Ref.39
"The major cystic fibrosis causing mutation exhibits defective propensity for phosphorylation."
Pasyk S., Molinski S., Ahmadi S., Ramjeesingh M., Huan L.J., Chin S., Du K., Yeger H., Taylor P., Moran M.F., Bear C.E.
Proteomics 15:447-461(2015) [PubMed] [Europe PMC] [Abstract]
Pasyk S., Molinski S., Ahmadi S., Ramjeesingh M., Huan L.J., Chin S., Du K., Yeger H., Taylor P., Moran M.F., Bear C.E.
Proteomics 15:447-461(2015) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, CHARACTERIZATION OF CF VARIANT PHE-508 DEL, SUBCELLULAR LOCATION, PHOSPHORYLATION AT SER-660; SER-670; SER-700; SER-712; SER-737; SER-753; SER-768; SER-795 AND SER-813, IDENTIFICATION BY MASS SPECTROMETRY.
Ref.48
"Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure."
Lewis H.A., Zhao X., Wang C., Sauder J.M., Rooney I., Noland B.W., Lorimer D., Kearins M.C., Conners K., Condon B., Maloney P.C., Guggino W.B., Hunt J.F., Emtage S.
J. Biol. Chem. 280:1346-1353(2005) [PubMed] [Europe PMC] [Abstract]
Lewis H.A., Zhao X., Wang C., Sauder J.M., Rooney I., Noland B.W., Lorimer D., Kearins M.C., Conners K., Condon B., Maloney P.C., Guggino W.B., Hunt J.F., Emtage S.
J. Biol. Chem. 280:1346-1353(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.25 ANGSTROMS) OF 389-678 OF WILD-TYPE AND VARIANT CF PHE-508 DEL IN COMPLEX WITH ATP, CHARACTERIZATION OF VARIANT CF PHE-508 DEL.
Ref.51
"Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant."
Atwell S., Brouillette C.G., Conners K., Emtage S., Gheyi T., Guggino W.B., Hendle J., Hunt J.F., Lewis H.A., Lu F., Protasevich I.I., Rodgers L.A., Romero R., Wasserman S.R., Weber P.C., Wetmore D., Zhang F.F., Zhao X.
Protein Eng. Des. Sel. 23:375-384(2010) [PubMed] [Europe PMC] [Abstract]
Atwell S., Brouillette C.G., Conners K., Emtage S., Gheyi T., Guggino W.B., Hendle J., Hunt J.F., Lewis H.A., Lu F., Protasevich I.I., Rodgers L.A., Romero R., Wasserman S.R., Weber P.C., Wetmore D., Zhang F.F., Zhao X.
Protein Eng. Des. Sel. 23:375-384(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (1.70 ANGSTROMS) OF 387-646 IN COMPLEX WITH ATP, CHARACTERIZATION OF VARIANT CF PHE-508 DEL.
Ref.56
"Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis."
Cheng S.H., Gregory R.J., Marshall J., Paul S., Souza D.W., White G.A., O'Riordan C.R., Smith A.E.
Cell 63:827-834(1990) [PubMed] [Europe PMC] [Abstract]
Cheng S.H., Gregory R.J., Marshall J., Paul S., Souza D.W., White G.A., O'Riordan C.R., Smith A.E.
Cell 63:827-834(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANT CF TRP-334; ILE-507 DEL; PHE-508 DEL; ASP-551 AND ILE-549, MUTAGENESIS OF LYS-464; PHE-508 AND LYS-1250, GLYCOSYLATION.
Ref.57
"A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein."
Cutting G.R., Kasch L.M., Rosenstein B.J., Zielenski J., Tsui L.-C., Antonarakis S.E., Kazazian H.H. Jr.
Nature 346:366-369(1990) [PubMed] [Europe PMC] [Abstract]
Cutting G.R., Kasch L.M., Rosenstein B.J., Zielenski J., Tsui L.-C., Antonarakis S.E., Kazazian H.H. Jr.
Nature 346:366-369(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CF.
Ref.58
"Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene."
Kerem B.-S., Zielenski J., Markiewicz D., Bozon D., Gazit E., Yahav J., Kennedy D., Riordan J.R., Collins F.S., Rommens J.M., Tsui L.-C.
Proc. Natl. Acad. Sci. U.S.A. 87:8447-8451(1990) [PubMed] [Europe PMC] [Abstract]
Kerem B.-S., Zielenski J., Markiewicz D., Bozon D., Gazit E., Yahav J., Kennedy D., Riordan J.R., Collins F.S., Rommens J.M., Tsui L.-C.
Proc. Natl. Acad. Sci. U.S.A. 87:8447-8451(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CF.
Ref.59
"Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT)."
White M.B., Krueger L.J., Holsclaw D.S. Jr., Gerrard B.C., Stewart C., Quittell L., Dolganov G., Baranov V., Ivaschenko T., Kapronov N.I., Sebastio G., Castiglione O., Dean M.
Genomics 10:266-269(1991) [PubMed] [Europe PMC] [Abstract]
White M.B., Krueger L.J., Holsclaw D.S. Jr., Gerrard B.C., Stewart C., Quittell L., Dolganov G., Baranov V., Ivaschenko T., Kapronov N.I., Sebastio G., Castiglione O., Dean M.
Genomics 10:266-269(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CF.
Ref.60
"Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2."
Gregory R.J., Rich D.P., Cheng S.H., Souza D.W., Paul S., Manavalan P., Anderson M.P., Welsh M.J., Smith A.E.
Mol. Cell. Biol. 11:3886-3893(1991) [PubMed] [Europe PMC] [Abstract]
Gregory R.J., Rich D.P., Cheng S.H., Souza D.W., Paul S., Manavalan P., Anderson M.P., Welsh M.J., Smith A.E.
Mol. Cell. Biol. 11:3886-3893(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF CF VARIANTS ILE-507 DEL; PHE-508 DEL; ILE-549; ARG-549; ASP-551; THR-559; ASN-572; LYS-1303 AND ASP-1349, FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF PHE-508.
Ref.61
"Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions."
Fanen P., Ghanem N., Vidaud M., Besmond C., Martin J., Costes B., Plassa F., Goossens M.
Genomics 13:770-776(1992) [PubMed] [Europe PMC] [Abstract]
Fanen P., Ghanem N., Vidaud M., Besmond C., Martin J., Costes B., Plassa F., Goossens M.
Genomics 13:770-776(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS VAL-44; MET-470; VAL-506; CYS-508; ALA-576; CYS-668; PHE-997; THR-1027 AND LEU-1162, VARIANTS CF GLY-44; ARG-178; ARG-225; TRP-334; PHE-508 DEL; 542-GLY--LEU-1480 DEL; ASP-551; ILE-562; ARG-628; 710-LYS--LEU-1480 DEL; 846-TRP--LEU-1480 DEL; CYS-913; 1063-TRP--LEU-1480 DEL; CYS-1066; 1092-TYR--LEU-1480 DEL; 1162-ARG--LEU-1480 DEL; GLU-1200; 1282-TRP--LEU-1480 DEL AND LYS-1303.
Ref.62
"Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation."
Jones C.T., McIntosh I., Keston M., Ferguson A., Brock D.J.H.
Hum. Mol. Genet. 1:11-17(1992) [PubMed] [Europe PMC] [Abstract]
Jones C.T., McIntosh I., Keston M., Ferguson A., Brock D.J.H.
Hum. Mol. Genet. 1:11-17(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CF PHE-520 AND HIS-1291.
Ref.63
"A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene."
Cheadle J.P., Meredith A.L., Al-Jader L.N.
Hum. Mol. Genet. 1:123-125(1992) [PubMed] [Europe PMC] [Abstract]
Cheadle J.P., Meredith A.L., Al-Jader L.N.
Hum. Mol. Genet. 1:123-125(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF MET-1283.
Ref.64
"A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene."
Lissens W., Bonduelle M., Malfroot A., Dab I., Liebaers I.
Hum. Mol. Genet. 1:441-442(1992) [PubMed] [Europe PMC] [Abstract]
Lissens W., Bonduelle M., Malfroot A., Dab I., Liebaers I.
Hum. Mol. Genet. 1:441-442(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF PRO-1255.
Ref.65
"Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP."
Shackleton S., Beards F., Harris A.
Hum. Mol. Genet. 1:439-440(1992) [PubMed] [Europe PMC] [Abstract]
Shackleton S., Beards F., Harris A.
Hum. Mol. Genet. 1:439-440(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CF LYS-92 AND CYS-117.
Ref.66
"Mislocalization of delta F508 CFTR in cystic fibrosis sweat gland."
Kartner N., Augustinas O., Jensen T.J., Naismith A.L., Riordan J.R.
Nat. Genet. 1:321-327(1992) [PubMed] [Europe PMC] [Abstract]
Kartner N., Augustinas O., Jensen T.J., Naismith A.L., Riordan J.R.
Nat. Genet. 1:321-327(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANT CF PHE-508 DEL AND ASP-551, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
Ref.67
"Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population."
Zielenski J., Fugiwara T.M., Markiewicz D., Paradis A.J., Anacleto A.I., Richards B., Schwartz R.H., Klinger K.W., Tsui L.-C., Morgan K.
Am. J. Hum. Genet. 52:609-615(1993) [PubMed] [Europe PMC] [Abstract]
Zielenski J., Fugiwara T.M., Markiewicz D., Paradis A.J., Anacleto A.I., Richards B., Schwartz R.H., Klinger K.W., Tsui L.-C., Morgan K.
Am. J. Hum. Genet. 52:609-615(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF LYS-1101.
Ref.68
"Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene."
Mercier B., Lissens W., Novelli G., Kalaydjieva L., De Arce M., Kapranov N., Klain N.C., Lenoir G., Chauveau P., Lenaerts C., Rault G., Cashman S., Sangiuolo F., Audrezet M.-P., Dallapiccola B., Guillermit H., Bonduelle M., Liebaers I. , Quere I., Verlingue C., Ferec C.
Genomics 16:296-297(1993) [PubMed] [Europe PMC] [Abstract]
Mercier B., Lissens W., Novelli G., Kalaydjieva L., De Arce M., Kapranov N., Klain N.C., Lenoir G., Chauveau P., Lenaerts C., Rault G., Cashman S., Sangiuolo F., Audrezet M.-P., Dallapiccola B., Guillermit H., Bonduelle M., Liebaers I. , Quere I., Verlingue C., Ferec C.
Genomics 16:296-297(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CF VAL-1052; ARG-1061; LEU-1066; GLN-1070; ARG-1085 AND ARG-1101.
Ref.69
"Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients."
Audrezet M.P., Novelli G., Mercier B., Sangiuolo F., Maceratesi P., Ferec C., Dallapiccola B.
Hum. Hered. 43:295-300(1993) [PubMed] [Europe PMC] [Abstract]
Audrezet M.P., Novelli G., Mercier B., Sangiuolo F., Maceratesi P., Ferec C., Dallapiccola B.
Hum. Hered. 43:295-300(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF LEU-693.
Ref.70
"A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype."
Nunes V., Chillon M., Doerk T., Tuemmler B., Casals T., Estivill X.
Hum. Mol. Genet. 2:79-80(1993) [PubMed] [Europe PMC] [Abstract]
Nunes V., Chillon M., Doerk T., Tuemmler B., Casals T., Estivill X.
Hum. Mol. Genet. 2:79-80(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF LYS-92.
Ref.71
"Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype."
Chillon M., Casals T., Nunes V., Gimenez J., Ruiz E.P., Estivill X.
Hum. Mol. Genet. 2:1741-1742(1993) [PubMed] [Europe PMC] [Abstract]
Chillon M., Casals T., Nunes V., Gimenez J., Ruiz E.P., Estivill X.
Hum. Mol. Genet. 2:1741-1742(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF SER-205.
Ref.72
"Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes."
Gasparini P., Marigo C., Bisceglia G., Nicolis E., Zelante L., Bombieri C., Borgo G., Pignatti P.F., Cabrini G.
Hum. Mutat. 2:389-394(1993) [PubMed] [Europe PMC] [Abstract]
Gasparini P., Marigo C., Bisceglia G., Nicolis E., Zelante L., Bombieri C., Borgo G., Pignatti P.F., Cabrini G.
Hum. Mutat. 2:389-394(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CF.
Ref.73
"Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene."
Ghanem N., Costes B., Girodon E., Martin J., Fanen P., Goossens M.
Genomics 21:434-436(1994) [PubMed] [Europe PMC] [Abstract]
Ghanem N., Costes B., Girodon E., Martin J., Fanen P., Goossens M.
Genomics 21:434-436(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CYS-31 AND ILE-1220, VARIANTS CF 890-GLN--LEU-1480 DEL; LEU-912; TYR-949; PRO-1065; PRO-1071 AND 1204-TRP--LEU-1480 DEL.
Ref.74
"Novel cystic fibrosis mutation associated with mild disease in Cypriot patients."
Boteva K., Papageorgiou E., Georgiou C., Angastiniotis M., Middleton L.T., Constantinou-Deltas C.D.
Hum. Genet. 93:529-532(1994) [PubMed] [Europe PMC] [Abstract]
Boteva K., Papageorgiou E., Georgiou C., Angastiniotis M., Middleton L.T., Constantinou-Deltas C.D.
Hum. Genet. 93:529-532(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF PRO-346.
Ref.75
"Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients."
Doerk T., Mekus F., Schmidt K., Bosshammer J., Fislage R., Heuer T., Dziadek V., Neumann T., Kaelin N., Wulbrand U., Wulf B., von der Hardt H., Maass G., Tuemmler B.
Hum. Genet. 94:533-542(1994) [PubMed] [Europe PMC] [Abstract]
Doerk T., Mekus F., Schmidt K., Bosshammer J., Fislage R., Heuer T., Dziadek V., Neumann T., Kaelin N., Wulbrand U., Wulf B., von der Hardt H., Maass G., Tuemmler B.
Hum. Genet. 94:533-542(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CF TYR-199; SER-619; ARG-1005 AND ARG-1291.
Ref.76
"A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene."
Greil I., Wagner K., Rosenkranz W.
Hum. Hered. 44:238-240(1994) [PubMed] [Europe PMC] [Abstract]
Greil I., Wagner K., Rosenkranz W.
Hum. Hered. 44:238-240(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF GLU-1249.
Ref.77
"Identification of two new mutations (711 +3A-->G and V1397E) in CF chromosomes of Albanian and Macedonian origin."
Petreska L., Koceva S., Gordova-Muratovska A., Nestorov R., Efremov G.D.
Hum. Mol. Genet. 3:999-1000(1994) [PubMed] [Europe PMC] [Abstract]
Petreska L., Koceva S., Gordova-Muratovska A., Nestorov R., Efremov G.D.
Hum. Mol. Genet. 3:999-1000(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF GLU-1397.
Ref.78
"A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR."
Schaedel C., Kristoffersson A.-C., Kornfaelt R., Holmberg L.
Hum. Mol. Genet. 3:1001-1002(1994) [PubMed] [Europe PMC] [Abstract]
Schaedel C., Kristoffersson A.-C., Kornfaelt R., Holmberg L.
Hum. Mol. Genet. 3:1001-1002(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF CYS-109.
Ref.79
"Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4)."
Chillon M., Casals T., Gimenez J., Nunes V., Estivill X.
Hum. Mutat. 3:223-230(1994) [PubMed] [Europe PMC] [Abstract]
Chillon M., Casals T., Gimenez J., Nunes V., Estivill X.
Hum. Mutat. 3:223-230(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF THR-120.
Ref.80
"A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene."
Bienvenu T., Petitpretz P., Beldjord C., Kaplan J.C.
Hum. Mutat. 3:395-396(1994) [PubMed] [Europe PMC] [Abstract]
Bienvenu T., Petitpretz P., Beldjord C., Kaplan J.C.
Hum. Mutat. 3:395-396(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF LEU-87.
Ref.83
"Mild cystic fibrosis disease in three Mexican delta-F508/G551S compound heterozygous siblings."
Orozco L., Lezana J.L., Villarreal M.T., Chavez M., Carnevale A.
Clin. Genet. 47:96-98(1995) [PubMed] [Europe PMC] [Abstract]
Orozco L., Lezana J.L., Villarreal M.T., Chavez M., Carnevale A.
Clin. Genet. 47:96-98(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF SER-551.
Ref.84
"Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations."
Brancolini V., Cremonesi L., Belloni E., Pappalardo E., Bordoni R., Seia M., Russo S., Padoan R., Giunta A., Ferrari M.
Hum. Genet. 96:312-318(1995) [PubMed] [Europe PMC] [Abstract]
Brancolini V., Cremonesi L., Belloni E., Pappalardo E., Bordoni R., Seia M., Russo S., Padoan R., Giunta A., Ferrari M.
Hum. Genet. 96:312-318(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CF GLY-57; LYS-193 AND GLY-579.
Ref.85
"Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype."
Desgeorges M., Rodier M., Piot M., Demaille J., Claustres M.
Hum. Genet. 96:717-720(1995) [PubMed] [Europe PMC] [Abstract]
Desgeorges M., Rodier M., Piot M., Demaille J., Claustres M.
Hum. Genet. 96:717-720(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF TRP-206.
Ref.86
"Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene."
Zielenski J., Markiewicz D., Chen H.S., Schappert K.T., Seller A., Durie P., Corey M., Tsui L.-C.
Hum. Mutat. 5:43-47(1995) [PubMed] [Europe PMC] [Abstract]
Zielenski J., Markiewicz D., Chen H.S., Schappert K.T., Seller A., Durie P., Corey M., Tsui L.-C.
Hum. Mutat. 5:43-47(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CF LEU-31 AND ARG-1098.
Ref.87
"Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles."
Verlingue C., Kapranov N.I., Mercier B., Ginter E.K., Petrova N.V., Audrezet M.P., Ferec C.
Hum. Mutat. 5:205-209(1995) [PubMed] [Europe PMC] [Abstract]
Verlingue C., Kapranov N.I., Mercier B., Ginter E.K., Petrova N.V., Audrezet M.P., Ferec C.
Hum. Mutat. 5:205-209(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF ASN-572.
Ref.88
"Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult."
Romey M.-C., Desgeorges M., Ray P., Godard P., Demaille J., Claustres M.
Hum. Mutat. 6:190-191(1995) [PubMed] [Europe PMC] [Abstract]
Romey M.-C., Desgeorges M., Ray P., Godard P., Demaille J., Claustres M.
Hum. Mutat. 6:190-191(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF ARG-98.
Ref.89
"A specific cystic fibrosis mutation (T338I) associated with the phenotype of isolated hypotonic dehydration."
Leoni G.B., Pitzalis S., Podda R., Zanda M., Silvetti M., Caocci L., Cao A., Rosatelli M.C.
J. Pediatr. 127:281-283(1995) [PubMed] [Europe PMC] [Abstract]
Leoni G.B., Pitzalis S., Podda R., Zanda M., Silvetti M., Caocci L., Cao A., Rosatelli M.C.
J. Pediatr. 127:281-283(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF ILE-338.
Ref.90
"Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients."
Ferec C., Novelli G., Verlingue C., Quere I., Dallapiccola B., Audrezet M.P., Mercier B.
Mol. Cell. Probes 9:135-137(1995) [PubMed] [Europe PMC] [Abstract]
Ferec C., Novelli G., Verlingue C., Quere I., Dallapiccola B., Audrezet M.P., Mercier B.
Mol. Cell. Probes 9:135-137(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CF PHE-42; LEU-117; ARG-139 AND GLU-1006.
Ref.91
"Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations."
Messaoud T., Verlingue C., Denamur E., Pascaud O., Quere I., Fattoum S., Elion J., Ferec C.
Eur. J. Hum. Genet. 4:20-24(1996) [PubMed] [Europe PMC] [Abstract]
Messaoud T., Verlingue C., Denamur E., Pascaud O., Quere I., Fattoum S., Elion J., Ferec C.
Eur. J. Hum. Genet. 4:20-24(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF SER-665.
Ref.92
"Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure."
Nasr S.Z., Strong T.V., Mansoura M.K., Dawson D.C., Collins F.S.
Hum. Mutat. 7:151-154(1996) [PubMed] [Europe PMC] [Abstract]
Nasr S.Z., Strong T.V., Mansoura M.K., Dawson D.C., Collins F.S.
Hum. Mutat. 7:151-154(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF ARG-314.
Ref.93
"A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin."
Petreska L., Plaseska D., Koseva S., Stavljenic-Rukavina A., Efremov G.D.
Hum. Mutat. 7:374-375(1996) [PubMed] [Europe PMC] [Abstract]
Petreska L., Plaseska D., Koseva S., Stavljenic-Rukavina A., Efremov G.D.
Hum. Mutat. 7:374-375(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF CYS-569.
Ref.94
"Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients."
Bienvenu T., Chertkoff L., Beldjord C., Segal E., Carniglia L., Barreiro C., Kaplan J.-C.
Hum. Mutat. 7:376-377(1996) [PubMed] [Europe PMC] [Abstract]
Bienvenu T., Chertkoff L., Beldjord C., Segal E., Carniglia L., Barreiro C., Kaplan J.-C.
Hum. Mutat. 7:376-377(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF ARG-1061.
Ref.95
"Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes."
Hughes D.J., Hill A.J.M., Macek M. Jr., Redmond A.O., Nevin N.C., Graham C.A.
Hum. Mutat. 8:340-347(1996) [PubMed] [Europe PMC] [Abstract]
Hughes D.J., Hill A.J.M., Macek M. Jr., Redmond A.O., Nevin N.C., Graham C.A.
Hum. Mutat. 8:340-347(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF LEU-562.
Ref.96
"ATPase activity of the cystic fibrosis transmembrane conductance regulator."
Li C., Ramjeesingh M., Wang W., Garami E., Hewryk M., Lee D., Rommens J.M., Galley K., Bear C.E.
J. Biol. Chem. 271:28463-28468(1996) [PubMed] [Europe PMC] [Abstract]
Li C., Ramjeesingh M., Wang W., Garami E., Hewryk M., Lee D., Rommens J.M., Galley K., Bear C.E.
J. Biol. Chem. 271:28463-28468(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANT CF ASP-551, CATALYTIC ACTIVITY, FUNCTION, SUBCELLULAR LOCATION, PHOSPHORYLATION.
Ref.98
"Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140."
Clavel C., Pennaforte F., Pigeon F., Verlingue C., Birembaut P., Ferec C.
Hum. Mutat. 9:368-369(1997) [PubMed] [Europe PMC] [Abstract]
Clavel C., Pennaforte F., Pigeon F., Verlingue C., Birembaut P., Ferec C.
Hum. Mutat. 9:368-369(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF MET-1140 DEL.
Ref.99
"Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient."
Gouya L., Pascaud O., Munck A., Elion J., Denamur E.
Hum. Mutat. 10:86-87(1997) [PubMed] [Europe PMC] [Abstract]
Gouya L., Pascaud O., Munck A., Elion J., Denamur E.
Hum. Mutat. 10:86-87(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF ASP-141.
Ref.100
"Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients."
Casals T., Pacheco P., Barreto C., Gimenez J., Ramos M.D., Pereira S., Pinheiro J.A., Cobos N., Curvelo A., Vazquez C., Rocha H., Seculi J.L., Perez E., Dapena J., Carrilho E., Duarte A., Palacio A.M., Nunes V., Lavinha J., Estivill X.
Hum. Mutat. 10:387-392(1997) [PubMed] [Europe PMC] [Abstract]
Casals T., Pacheco P., Barreto C., Gimenez J., Ramos M.D., Pereira S., Pinheiro J.A., Cobos N., Curvelo A., Vazquez C., Rocha H., Seculi J.L., Perez E., Dapena J., Carrilho E., Duarte A., Palacio A.M., Nunes V., Lavinha J., Estivill X.
Hum. Mutat. 10:387-392(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF CYS-1066.
Ref.101
"Cystic fibrosis mutation frequencies in upstate New York."
Shrimpton A.E., Borowitz D., Swender P.
Hum. Mutat. 10:436-442(1997) [PubMed] [Europe PMC] [Abstract]
Shrimpton A.E., Borowitz D., Swender P.
Hum. Mutat. 10:436-442(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CF GLU-85; HIS-117; TYR-287; GLU-455; ASP-551; PRO-1070 AND LYS-1303.
Ref.102
"Cystic fibrosis transmembrane-conductance regulator mutations among African Americans."
Friedman K.J., Leigh M.W., Czarnecki P., Feldman G.L.
Am. J. Hum. Genet. 62:195-196(1998) [PubMed] [Europe PMC] [Abstract]
Friedman K.J., Leigh M.W., Czarnecki P., Feldman G.L.
Am. J. Hum. Genet. 62:195-196(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF PHE-311 DEL.
Ref.103
"Characterization of mutations located in exon 18 of the CFTR gene."
Vankeerberghen A., Wei L., Teng H., Jaspers M., Cassiman J.J., Nilius B., Cuppens H.
FEBS Lett. 437:1-4(1998) [PubMed] [Europe PMC] [Abstract]
Vankeerberghen A., Wei L., Teng H., Jaspers M., Cassiman J.J., Nilius B., Cuppens H.
FEBS Lett. 437:1-4(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS CF VAL-1137; MET-1140 DEL AND HIS-1152, MUTAGENESIS OF MET-1137; ILE-1139 AND ASP-1154, SUBCELLULAR LOCATION, FUNCTION.
Ref.104
"Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)."
Onay T., Topaloglu O., Zielenski J., Gokgoz N., Kayserili H., Camcioglu Y., Cokugras H., Akcakaya N., Apak M., Tsui L.-C., Kirdar B.
Hum. Genet. 102:224-230(1998) [PubMed] [Europe PMC] [Abstract]
Onay T., Topaloglu O., Zielenski J., Gokgoz N., Kayserili H., Camcioglu Y., Cokugras H., Akcakaya N., Apak M., Tsui L.-C., Kirdar B.
Hum. Genet. 102:224-230(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CF LEU-1013 AND ILE-1028.
Ref.105
"Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease."
Bombieri C., Benetazzo M., Saccomani A., Belpinati F., Gile L.S., Luisetti M., Pignatti P.F.
Hum. Genet. 103:718-722(1998) [PubMed] [Europe PMC] [Abstract]
Bombieri C., Benetazzo M., Saccomani A., Belpinati F., Gile L.S., Luisetti M., Pignatti P.F.
Hum. Genet. 103:718-722(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CF, VARIANTS CYS-31; GLN-75; VAL-506 AND CYS-668.
Ref.106
"Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator."
Vankeerberghen A., Wei L., Jaspers M., Cassiman J.-J., Nilius B., Cuppens H.
Hum. Mol. Genet. 7:1761-1769(1998) [PubMed] [Europe PMC] [Abstract]
Vankeerberghen A., Wei L., Jaspers M., Cassiman J.-J., Nilius B., Cuppens H.
Hum. Mol. Genet. 7:1761-1769(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS CF PHE-601; SER-610; THR-613; GLY-614; THR-618; SER-619; GLN-620; PRO-620; ARG-628; PRO-633 AND SER-665, CHARACTERIZATION OF VARIANT OLIGOSPERMIA ASP-622, CHARACTERIZATION OF VARIANTS CBAVD GLY-792 AND GLY-800, CHARACTERIZATION OF VARIANT THORACIC SARCOIDOSIS LYS-828.
Ref.107
"Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C)."
Malone G., Haworth A., Schwarz M.J., Cuppens H., Super M.
Hum. Mutat. 11:152-157(1998) [PubMed] [Europe PMC] [Abstract]
Malone G., Haworth A., Schwarz M.J., Cuppens H., Super M.
Hum. Mutat. 11:152-157(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CF SER-560 AND ASP-569.
Ref.108
"Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin."
Leoni G.B., Pitzalis S., Tonelli R., Cao A.
Hum. Mutat. 11:337-337(1998) [PubMed] [Europe PMC] [Abstract]
Leoni G.B., Pitzalis S., Tonelli R., Cao A.
Hum. Mutat. 11:337-337(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CF PHE-13 AND ILE-338.
Ref.109
"Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121+1G-->A in four French patients."
Feldmann D., Sardet A., Cougoureux E., Plouvier E., Fontaine J.-L., Tournier G., Aymard P.
Hum. Mutat. Suppl. 1:S78-S80(1998) [PubMed] [Europe PMC] [Abstract]
Feldmann D., Sardet A., Cougoureux E., Plouvier E., Fontaine J.-L., Tournier G., Aymard P.
Hum. Mutat. Suppl. 1:S78-S80(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CF PRO-117 AND ASP-192 DEL.
Ref.110
"Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis."
Casals T., Ramos M.D., Gimenez J., Nadal M., Nunes V., Estivill X.
Hum. Mutat. Suppl. 1:S99-S102(1998) [PubMed] [Europe PMC] [Abstract]
Casals T., Ramos M.D., Gimenez J., Nadal M., Nunes V., Estivill X.
Hum. Mutat. Suppl. 1:S99-S102(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF ARG-1065.
Ref.111
"A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene."
Shackleton S., Harris A.
Hum. Mutat. Suppl. 1:S156-S157(1998) [PubMed] [Europe PMC] [Abstract]
Shackleton S., Harris A.
Hum. Mutat. Suppl. 1:S156-S157(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF ASN-LYS-370 INS.
Ref.114
"Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement."
Picci L., Cameran M., Olante P., Zacchello F., Scarpa M.
Hum. Mutat. 13:173-173(1999) [PubMed] [Europe PMC] [Abstract]
Picci L., Cameran M., Olante P., Zacchello F., Scarpa M.
Hum. Mutat. 13:173-173(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF GLY-579.
Ref.115
"Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis."
Choi J.Y., Muallem D., Kiselyov K., Lee M.G., Thomas P.J., Muallem S.
Nature 410:94-97(2001) [PubMed] [Europe PMC] [Abstract]
Choi J.Y., Muallem D., Kiselyov K., Lee M.G., Thomas P.J., Muallem S.
Nature 410:94-97(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS CF HIS-117; THR-148; ARG-178; LYS-193; ASP-551; SER-551; GLN-620; VAL-648; GLY-800; TYR-949; THR-1067; GLN-1070; GLU-1244; PRO-1255 AND ASP-1349.
Ref.116
"The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis."
Rohlfs E.M., Zhou Z., Sugarman E.A., Heim R.A., Pace R.G., Knowles M.R., Silverman L.M., Allitto B.A.
Genet. Med. 4:319-323(2002) [PubMed] [Europe PMC] [Abstract]
Rohlfs E.M., Zhou Z., Sugarman E.A., Heim R.A., Pace R.G., Knowles M.R., Silverman L.M., Allitto B.A.
Genet. Med. 4:319-323(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CF THR-148; PHE-508 DEL; 890-GLN--LEU-1480 DEL; 1023-ILE-VAL-1024 DEL AND LYS-1303.
Ref.117
"Variant cystic fibrosis phenotypes in the absence of CFTR mutations."
Groman J.D., Meyer M.E., Wilmott R.W., Zeitlin P.L., Cutting G.R.
N. Engl. J. Med. 347:401-407(2002) [PubMed] [Europe PMC] [Abstract]
Groman J.D., Meyer M.E., Wilmott R.W., Zeitlin P.L., Cutting G.R.
N. Engl. J. Med. 347:401-407(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CF LEU-693.
Ref.118
"A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates."
Silvis M.R., Picciano J.A., Bertrand C., Weixel K., Bridges R.J., Bradbury N.A.
J. Biol. Chem. 278:11554-11560(2003) [PubMed] [Europe PMC] [Abstract]
Silvis M.R., Picciano J.A., Bertrand C., Weixel K., Bridges R.J., Bradbury N.A.
J. Biol. Chem. 278:11554-11560(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANT CF TYR-287 AND PHE-508 DEL, SUBCELLULAR LOCATION, FUNCTION, GLYCOSYLATION.
Ref.119
"Characterization of wild-type and deltaF508 cystic fibrosis transmembrane regulator in human respiratory epithelia."
Kreda S.M., Mall M., Mengos A., Rochelle L., Yankaskas J., Riordan J.R., Boucher R.C.
Mol. Biol. Cell 16:2154-2167(2005) [PubMed] [Europe PMC] [Abstract]
Kreda S.M., Mall M., Mengos A., Rochelle L., Yankaskas J., Riordan J.R., Boucher R.C.
Mol. Biol. Cell 16:2154-2167(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANT CF PHE-508 DEL, SUBCELLULAR LOCATION, FUNCTION, TISSUE SPECIFICITY.
Ref.120
"Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms."
Roxo-Rosa M., Xu Z., Schmidt A., Neto M., Cai Z., Soares C.M., Sheppard D.N., Amaral M.D.
Proc. Natl. Acad. Sci. U.S.A. 103:17891-17896(2006) [PubMed] [Europe PMC] [Abstract]
Roxo-Rosa M., Xu Z., Schmidt A., Neto M., Cai Z., Soares C.M., Sheppard D.N., Amaral M.D.
Proc. Natl. Acad. Sci. U.S.A. 103:17891-17896(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS CF PHE-508 DEL; THR-560; GLU-561 AND ILE-562.
Ref.121
"Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes."
Suaud L., Yan W., Rubenstein R.C.
Am. J. Physiol. 292:C603-C611(2007) [PubMed] [Europe PMC] [Abstract]
Suaud L., Yan W., Rubenstein R.C.
Am. J. Physiol. 292:C603-C611(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANT CF THR-148.
Ref.122
"Regulatory interactions of N1303K-CFTR and ENaC in Xenopus oocytes: evidence that chloride transport is not necessary for inhibition of ENaC."
Suaud L., Yan W., Carattino M.D., Robay A., Kleyman T.R., Rubenstein R.C.
Am. J. Physiol. 292:C1553-C1561(2007) [PubMed] [Europe PMC] [Abstract]
Suaud L., Yan W., Carattino M.D., Robay A., Kleyman T.R., Rubenstein R.C.
Am. J. Physiol. 292:C1553-C1561(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANT CF LYS-1303, FUNCTION, SUBCELLULAR LOCATION.
Ref.125
"Clinical hallmarks and genetic polymorphisms in the CFTR gene contribute to the disclosure of the A1006E mutation."
Tomaiuolo A.C., Alghisi F., Petrocchi S., Surace C., Roberti M.C., Bella S., Lucidi V., Angioni A.
Clin. Invest. Med. 33:E234-E239(2010) [PubMed] [Europe PMC] [Abstract]
Tomaiuolo A.C., Alghisi F., Petrocchi S., Surace C., Roberti M.C., Bella S., Lucidi V., Angioni A.
Clin. Invest. Med. 33:E234-E239(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CF 220-GLN--LEU-1480 DEL; MET-470; PHE-508 DEL; ILE-562 AND GLU-1006.
Ref.126
"On the mechanism of gating defects caused by the R117H mutation in cystic fibrosis transmembrane conductance regulator."
Yu Y.C., Sohma Y., Hwang T.C.
J. Physiol. (Lond.) 594:3227-3244(2016) [PubMed] [Europe PMC] [Abstract]
Yu Y.C., Sohma Y., Hwang T.C.
J. Physiol. (Lond.) 594:3227-3244(2016) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANT CF HIS-117, FUNCTION, SUBCELLULAR LOCATION.
Ref.127
"Direct measurement of trafficking of the cystic fibrosis transmembrane conductance regulator to the cell surface and binding to a chemical chaperone."
Zhang Z., Baksh M.M., Finn M.G., Heidary D.K., Richards C.I.
Biochemistry 56:240-249(2017) [PubMed] [Europe PMC] [Abstract]
Zhang Z., Baksh M.M., Finn M.G., Heidary D.K., Richards C.I.
Biochemistry 56:240-249(2017) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANT CF PHE-508 DEL, SUBCELLULAR LOCATION, MUTAGENESIS OF ILE-539.
Ref.128
"Two small molecules restore stability to a sub-population of the cystic fibrosis transmembrane conductance regulator with the predominant disease-causing mutation."
Meng X., Wang Y., Wang X., Wrennall J.A., Rimington T.L., Li H., Cai Z., Ford R.C., Sheppard D.N.
J. Biol. Chem. 292:3706-3719(2017) [PubMed] [Europe PMC] [Abstract]
Meng X., Wang Y., Wang X., Wrennall J.A., Rimington T.L., Li H., Cai Z., Ford R.C., Sheppard D.N.
J. Biol. Chem. 292:3706-3719(2017) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS CF PHE-508 DEL AND ASP-551, SUBCELLULAR LOCATION, FUNCTION.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA common generalized disorder of the exocrine glands which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive.
See also OMIM:219700| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000101 | 13 | S → F in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000103 | 31 | R → L in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000104 | 42 | S → F in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000105 | 44 | D → G in CF; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000108 | 57 | W → G in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000109 | 67 | P → L in CF. Corresponds to variant dbSNP:rs368505753EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000112 | 85 | G → E in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000113 | 87 | F → L in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000114 | 91 | G → R in CF. Corresponds to variant dbSNP:rs121908750EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000115 | 92 | E → K in CF. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000116 | 98 | Q → R in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000117 | 105 | I → S in CF. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000118 | 109 | Y → C in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000121 | 117 | R → C in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000123 | 117 | R → L in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000124 | 117 | R → P in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000125 | 120 | A → T in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000126 | 139 | H → R in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000127 | 141 | A → D in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000128 | 148 | I → T in CF; unknown pathological significance; found in compound heterozygous patients bearing a severe CF mutation in trans; loss of bicarbonate transport; decreased inhibition of epithelial sodium channel (ENaC), when tested in a heterologous system; no effect on protein maturation, subcellular location at the plasma membrane, nor on chloride channel activity. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000130 | 178 | G → R in CF; loss of bicarbonate transport; no effect on protein maturation, subcellular location at the plasma membrane, nor on chloride channel activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000131 | 192 | Missing in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000133 | 199 | H → Q in CF. Corresponds to variant dbSNP:rs397508765EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000134 | 199 | H → Y in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000135 | 205 | P → S in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080302 | 220 – 1480 | Missing in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1261 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000137 | 225 | C → R in CF; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000140 | 287 | N → Y in CF; decreased presence at the cell membrane due to increased internalization from the apical cell membrane; no effect on single channel gating and conductance. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000141 | 297 | R → Q in CF. Corresponds to variant dbSNP:rs143486492EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000142 | 301 | Y → C in CF. Corresponds to variant dbSNP:rs150691494EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000143 | 307 | S → N in CF. Corresponds to variant dbSNP:rs397508817EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000144 | 311 | F → L in CF. Corresponds to variant dbSNP:rs121909016EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000145 | 311 | Missing in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000146 | 314 | G → E in CF. Corresponds to variant dbSNP:rs75763344EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000147 | 314 | G → R in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000150 | 336 | I → K in CF. Corresponds to variant dbSNP:rs397508139EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000151 | 338 | T → I in CF; mild; isolated hypotonic dehydration. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000152 | 346 | L → P in CF; dominant mutation but mild phenotype. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000153 | 347 | R → H in CF. Corresponds to variant dbSNP:rs77932196EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000154 | 347 | R → L in CF. Corresponds to variant dbSNP:rs77932196EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000155 | 347 | R → P in CF; MILD. Corresponds to variant dbSNP:rs77932196EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000156 | 352 | R → Q in CF. Corresponds to variant dbSNP:rs121908753EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000158 | 359 – 360 | QT → KK in CF. Corresponds to variant dbSNP:rs397508152Ensembl. | 2 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000157 | 359 | Q → K in CF. Corresponds to variant dbSNP:rs76879328EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000159 | 370 | K → KNK in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000160 | 455 | A → E in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000161 | 456 | V → F in CF. Corresponds to variant dbSNP:rs397508195EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000162 | 458 | G → V in CF. Corresponds to variant dbSNP:rs121909009EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000165 | 480 | G → C in CF. Corresponds to variant dbSNP:rs79282516EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000166 | 492 | S → F in CF. Corresponds to variant dbSNP:rs121909017EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000167 | 504 | E → Q in CF. Corresponds to variant dbSNP:rs397508223EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000170 | 507 | Missing in CF; impaired maturation of glycan chains. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000174 | 520 | V → F in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080305 | 542 – 1480 | Missing in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 939 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000177 | 549 | S → I in CF; impaired maturation of glycan chains. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000176 | 549 | S → N in CF. Corresponds to variant dbSNP:rs121908755EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000178 | 549 | S → R in CF; impaired maturation of glycan chains. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000179 | 551 | G → D in CF; decrease in the frequency of channel opening in vitro; decrease in channel activity and ATPase activity; complete loss of bicarbonate transport; no effect on trafficking to the cell membrane, protein stability, nor on the maturation of glycans. 8 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000180 | 551 | G → S in CF; decrease in bicarbonate transport; no effect on chloride channel activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000181 | 553 | R → Q in CF. Corresponds to variant dbSNP:rs121909044EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000182 | 558 | L → S in CF. Corresponds to variant dbSNP:rs193922504EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000183 | 559 | A → T in CF; impaired maturation of glycan chains. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000184 | 560 | R → K in CF. Corresponds to variant dbSNP:rs80055610EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000185 | 560 | R → S in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000186 | 560 | R → T in CF; impairs maturation and trafficking to the cell membrane; decrease in channel activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080307 | 561 | A → E in CF; impairs maturation and trafficking to the cell membrane; decrease in channel activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000188 | 562 | V → L in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000189 | 563 | Y → N in CF. Corresponds to variant dbSNP:rs121909006EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000190 | 569 | Y → C in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000191 | 569 | Y → D in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000192 | 569 | Y → H in CF. Corresponds to variant dbSNP:rs397508276EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000193 | 571 | L → S in CF. Corresponds to variant dbSNP:rs397508280EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000194 | 572 | D → N in CF; impaired maturation of glycan chains. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000195 | 574 | P → H in CF. Corresponds to variant dbSNP:rs121908758EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000197 | 579 | D → G in CF. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000198 | 601 | I → F in CF; impaired maturation of glycan chains. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000199 | 610 | L → S in CF; impaired maturation of glycan chains. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000200 | 613 | A → T in CF; impaired maturation of glycan chains. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000201 | 614 | D → G in CF; impaired maturation of glycan chains. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000202 | 618 | I → T in CF; impaired maturation of glycan chains. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000203 | 619 | L → S in CF; impaired maturation of glycan chains. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000204 | 620 | H → P in CF; impaired maturation of glycan chains. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000205 | 620 | H → Q in CF; strong decrease in bicarbonate transport; increase in chloride channel activity in vitro; no effect on glycan maturation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000207 | 628 | G → R in CF; impaired maturation of glycan chains. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000208 | 633 | L → P in CF; impaired maturation of glycan chains. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000209 | 648 | D → V in CF; decrease in bicarbonate transport; no effect chloride channel activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000210 | 651 | D → N in CF. Corresponds to variant dbSNP:rs780526529Ensembl. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000211 | 665 | T → S in CF; no effect on glycan maturation and channel activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000213 | 693 | F → L in CF; unknown pathological significance. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080308 | 710 – 1480 | Missing in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 771 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000214 | 754 | V → M in CF. Corresponds to variant dbSNP:rs150157202EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000219 | 822 | E → K in CF. Corresponds to variant dbSNP:rs397508378EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080309 | 846 – 1480 | Missing in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 635 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000221 | 866 | C → Y in CF. Corresponds to variant dbSNP:rs193922506EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080310 | 890 – 1480 | Missing in CF. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 591 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000223 | 913 | Y → C in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000224 | 917 | Y → C in CF. Corresponds to variant dbSNP:rs397508428EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000225 | 949 | H → Y in CF; decrease in bicarbonate transport; no effect on chloride channel activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000228 | 1005 | I → R in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000229 | 1006 | A → E in CF. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000230 | 1013 | P → L in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080314 | 1023 – 1024 | Missing in CF; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 2 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000231 | 1028 | M → I in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000232 | 1052 | F → V in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000233 | 1061 | G → R in CF. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080317 | 1063 – 1480 | Missing in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 418 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000234 | 1065 | L → P in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000235 | 1065 | L → R in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000236 | 1066 | R → C in CF. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000237 | 1066 | R → H in CF. Corresponds to variant dbSNP:rs121909019EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000238 | 1066 | R → L in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000239 | 1067 | A → T in CF; loss of bicarbonate transport; no effect on protein maturation, subcellular location at the plasma membrane, nor on chloride channel activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000242 | 1070 | R → P in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000241 | 1070 | R → Q in CF; decrease in bicarbonate transport; no effect on chloride channel activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000243 | 1071 | Q → P in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000244 | 1072 | P → L in CF. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000245 | 1077 | L → P in CF. Corresponds to variant dbSNP:rs139304906EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000246 | 1085 | H → R in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080319 | 1092 – 1480 | Missing in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 389 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000247 | 1098 | W → R in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000248 | 1101 | M → K in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_011565 | 1101 | M → R in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000249 | 1137 | M → V in CF; decreases channel activity; no visible effect on protein maturation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000250 | 1140 | Missing in CF; abolishes channel activity; no visible effect on protein maturation. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080321 | 1162 – 1480 | Missing in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 319 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080322 | 1200 | K → E in CF; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080323 | 1204 – 1480 | Missing in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 277 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000254 | 1234 | I → V in CF. Corresponds to variant dbSNP:rs75389940EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000255 | 1235 | S → R in CF. Corresponds to variant dbSNP:rs34911792EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000256 | 1244 | G → E in CF; loss of bicarbonate transport; no effect on protein maturation, subcellular location at the plasma membrane, nor on chloride channel activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000257 | 1249 | G → E in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000258 | 1251 | S → N in CF. Corresponds to variant dbSNP:rs74503330EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000259 | 1255 | S → P in CF; loss of bicarbonate transport; no effect on protein maturation, subcellular location at the plasma membrane, nor on chloride channel activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000261 | 1282 | W → R in CF. Corresponds to variant dbSNP:rs397508616EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000262 | 1283 | R → M in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000263 | 1286 | F → S in CF. Corresponds to variant dbSNP:rs121909028EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000264 | 1291 | Q → H in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000265 | 1291 | Q → R in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000266 | 1303 | N → H in CF. Corresponds to variant dbSNP:rs121909042EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000267 | 1303 | N → K in CF; impaired maturation of glycan chains; has low in vitro channel activity at low temperature. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000268 | 1349 | G → D in CF; loss of bicarbonate transport; no effect on protein maturation, subcellular location at the plasma membrane, nor on chloride channel activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000270 | 1397 | V → E in CF. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Congenital bilateral absence of the vas deferens (CBAVD)7 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.81"Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients."
Mercier B., Verlingue C., Lissens W., Silber S.J., Novelli G., Bonduelle M., Audrezet M.-P., Ferec C.
Am. J. Hum. Genet. 56:272-277(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CBAVD ARG-149; LYS-193; GLY-258 AND GLY-800. - Ref.82"Structural analysis of CFTR gene in congenital bilateral absence of vas deferens."
Jezequel P., Dorval I., Fergelot P., Chauvel B., Le Treut A., Le Gall J.-Y., Le Lannou D., Blayau M.
Clin. Chem. 41:833-835(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CBAVD. - Ref.97"Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD)."
Zielenski J., Patrizio P., Markiewicz D., Asch R.H., Tsui L.-C.
Hum. Mutat. 9:183-184(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CBAVD TYR-50. - Ref.106"Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator."
Vankeerberghen A., Wei L., Jaspers M., Cassiman J.-J., Nilius B., Cuppens H.
Hum. Mol. Genet. 7:1761-1769(1998) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS CF PHE-601; SER-610; THR-613; GLY-614; THR-618; SER-619; GLN-620; PRO-620; ARG-628; PRO-633 AND SER-665, CHARACTERIZATION OF VARIANT OLIGOSPERMIA ASP-622, CHARACTERIZATION OF VARIANTS CBAVD GLY-792 AND GLY-800, CHARACTERIZATION OF VARIANT THORACIC SARCOIDOSIS LYS-828. - Ref.112"A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient."
Bienvenu T., Bousquet S., Vidaud D., Hubert D., Francoual C., Beldjord C., Kaplan J.-C.
Hum. Mutat. 12:213-214(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CBAVD GLY-513, VARIANT MET-470. - Ref.113"Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations."
de Meeus A., Guittard C., Desgeorges M., Carles S., Demaille J., Claustres M.
Hum. Mutat. 12:480-480(1998)Cited for: VARIANTS CBAVD LEU-111; LYS-244; VAL-544 AND VAL-1364. - Ref.123"Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling."
Ratbi I., Legendre M., Niel F., Martin J., Soufir J.C., Izard V., Costes B., Costa C., Goossens M., Girodon E.
Hum. Reprod. 22:1285-1291(2007) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS GLN-75 AND MET-470, VARIANTS CBAVD TRP-74; HIS-110; HIS-117; HIS-170; TRP-206; ASP-232; TRP-334; TYR-443; PHE-508 DEL; VAL-556; ILE-562; ALA-576; ASP-622; CYS-668; GLY-938; ILE-952; VAL-959; PHE-977; PHE-997; CYS-1032; ARG-1069; HIS-1152; GLU-1153; ASN-1270; 1282-TRP--LEU-1480 DEL; HIS-1352 AND 1473-GLU--LEU-1480 DEL.
Ref.81
"Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients."
Mercier B., Verlingue C., Lissens W., Silber S.J., Novelli G., Bonduelle M., Audrezet M.-P., Ferec C.
Am. J. Hum. Genet. 56:272-277(1995) [PubMed] [Europe PMC] [Abstract]
Mercier B., Verlingue C., Lissens W., Silber S.J., Novelli G., Bonduelle M., Audrezet M.-P., Ferec C.
Am. J. Hum. Genet. 56:272-277(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CBAVD ARG-149; LYS-193; GLY-258 AND GLY-800.
Ref.82
"Structural analysis of CFTR gene in congenital bilateral absence of vas deferens."
Jezequel P., Dorval I., Fergelot P., Chauvel B., Le Treut A., Le Gall J.-Y., Le Lannou D., Blayau M.
Clin. Chem. 41:833-835(1995) [PubMed] [Europe PMC] [Abstract]
Jezequel P., Dorval I., Fergelot P., Chauvel B., Le Treut A., Le Gall J.-Y., Le Lannou D., Blayau M.
Clin. Chem. 41:833-835(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CBAVD.
Ref.97
"Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD)."
Zielenski J., Patrizio P., Markiewicz D., Asch R.H., Tsui L.-C.
Hum. Mutat. 9:183-184(1997) [PubMed] [Europe PMC] [Abstract]
Zielenski J., Patrizio P., Markiewicz D., Asch R.H., Tsui L.-C.
Hum. Mutat. 9:183-184(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CBAVD TYR-50.
Ref.106
"Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator."
Vankeerberghen A., Wei L., Jaspers M., Cassiman J.-J., Nilius B., Cuppens H.
Hum. Mol. Genet. 7:1761-1769(1998) [PubMed] [Europe PMC] [Abstract]
Vankeerberghen A., Wei L., Jaspers M., Cassiman J.-J., Nilius B., Cuppens H.
Hum. Mol. Genet. 7:1761-1769(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS CF PHE-601; SER-610; THR-613; GLY-614; THR-618; SER-619; GLN-620; PRO-620; ARG-628; PRO-633 AND SER-665, CHARACTERIZATION OF VARIANT OLIGOSPERMIA ASP-622, CHARACTERIZATION OF VARIANTS CBAVD GLY-792 AND GLY-800, CHARACTERIZATION OF VARIANT THORACIC SARCOIDOSIS LYS-828.
Ref.112
"A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient."
Bienvenu T., Bousquet S., Vidaud D., Hubert D., Francoual C., Beldjord C., Kaplan J.-C.
Hum. Mutat. 12:213-214(1998) [PubMed] [Europe PMC] [Abstract]
Bienvenu T., Bousquet S., Vidaud D., Hubert D., Francoual C., Beldjord C., Kaplan J.-C.
Hum. Mutat. 12:213-214(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CBAVD GLY-513, VARIANT MET-470.
Ref.113
"Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations."
de Meeus A., Guittard C., Desgeorges M., Carles S., Demaille J., Claustres M.
Hum. Mutat. 12:480-480(1998)
de Meeus A., Guittard C., Desgeorges M., Carles S., Demaille J., Claustres M.
Hum. Mutat. 12:480-480(1998)
Cited for: VARIANTS CBAVD LEU-111; LYS-244; VAL-544 AND VAL-1364.
Ref.123
"Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling."
Ratbi I., Legendre M., Niel F., Martin J., Soufir J.C., Izard V., Costes B., Costa C., Goossens M., Girodon E.
Hum. Reprod. 22:1285-1291(2007) [PubMed] [Europe PMC] [Abstract]
Ratbi I., Legendre M., Niel F., Martin J., Soufir J.C., Izard V., Costes B., Costa C., Goossens M., Girodon E.
Hum. Reprod. 22:1285-1291(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GLN-75 AND MET-470, VARIANTS CBAVD TRP-74; HIS-110; HIS-117; HIS-170; TRP-206; ASP-232; TRP-334; TYR-443; PHE-508 DEL; VAL-556; ILE-562; ALA-576; ASP-622; CYS-668; GLY-938; ILE-952; VAL-959; PHE-977; PHE-997; CYS-1032; ARG-1069; HIS-1152; GLU-1153; ASN-1270; 1282-TRP--LEU-1480 DEL; HIS-1352 AND 1473-GLU--LEU-1480 DEL.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionImportant cause of sterility in men and could represent an incomplete form of cystic fibrosis, as the majority of men suffering from cystic fibrosis lack the vas deferens.
See also OMIM:277180| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000107 | 50 | S → Y in CBAVD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000120 | 111 | P → L in CBAVD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000129 | 149 | G → R in CBAVD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009896 | 170 | R → H in CBAVD; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080303 | 232 | V → D in CBAVD; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000138 | 244 | M → K in CBAVD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000139 | 258 | R → G in CBAVD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080304 | 443 | D → Y in CBAVD; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000173 | 513 | D → G in CBAVD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000175 | 544 | G → V in CBAVD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080306 | 556 | I → V in CBAVD; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000196 | 576 | G → A in CBAVD; unknown pathological significance. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000212 | 668 | R → C in CBAVD; unknown pathological significance. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000215 | 766 | R → M in CBAVD. Corresponds to variant dbSNP:rs397508363EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000216 | 792 | R → G in CBAVD; no effect on glycan maturation but decreased channel activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000217 | 800 | A → G in CBAVD; small decrease in bicarbonate transport; increase in chloride channel activity in vitro; no effect on glycan maturation. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000218 | 807 | I → M in CBAVD. Corresponds to variant dbSNP:rs1800103EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080311 | 938 | V → G in CBAVD; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080312 | 959 | A → V in CBAVD; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> |