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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-Experimental evidence at protein leveli

Functioni

Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporter. Can inhibit the chloride channel activity of ANO1. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation.1 Publication

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi458 – 465ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1244 – 1251ATP 2PROSITE-ProRule annotation8

GO - Molecular functioni

  • ATPase activity, coupled to transmembrane movement of substances Source: GO_Central
  • ATPase-coupled anion transmembrane transporter activity Source: Reactome
  • ATP binding Source: ProtInc
  • bicarbonate transmembrane transporter activity Source: UniProtKB
  • chloride channel activity Source: UniProtKB
  • chloride channel inhibitor activity Source: UniProtKB
  • chloride channel regulator activity Source: Reactome
  • chloride transmembrane transporter activity Source: UniProtKB
  • enzyme binding Source: UniProtKB
  • intracellular ATPase-gated chloride channel activity Source: UniProtKB
  • PDZ domain binding Source: UniProtKB

GO - Biological processi

  • bicarbonate transport Source: GO_Central
  • cellular response to cAMP Source: UniProtKB
  • chloride transmembrane transport Source: UniProtKB
  • cholesterol biosynthetic process Source: Ensembl
  • cholesterol transport Source: Ensembl
  • intracellular pH elevation Source: UniProtKB
  • membrane hyperpolarization Source: UniProtKB
  • membrane organization Source: Reactome
  • positive regulation of cyclic nucleotide-gated ion channel activity Source: UniProtKB
  • positive regulation of exocytosis Source: UniProtKB
  • positive regulation of insulin secretion involved in cellular response to glucose stimulus Source: UniProtKB
  • positive regulation of voltage-gated chloride channel activity Source: UniProtKB
  • protein deubiquitination Source: Reactome
  • respiratory gaseous exchange Source: ProtInc
  • sperm capacitation Source: UniProtKB
  • transmembrane transport Source: Reactome
  • transport Source: ProtInc
  • vesicle docking involved in exocytosis Source: Ensembl

Keywordsi

Molecular functionChloride channel, Hydrolase, Ion channel
Biological processIon transport, Transport
LigandATP-binding, Chloride, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS00075-MONOMER.
BRENDAi3.6.3.49. 2681.
ReactomeiR-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.
SIGNORiP13569.

Protein family/group databases

MoonProtiP13569.
TCDBi3.A.1.202.1. the atp-binding cassette (abc) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Cystic fibrosis transmembrane conductance regulator
Short name:
CFTR
Alternative name(s):
ATP-binding cassette sub-family C member 7
Channel conductance-controlling ATPase (EC:3.6.3.49)
cAMP-dependent chloride channel
Gene namesi
Name:CFTR
Synonyms:ABCC7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:1884. CFTR.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 80CytoplasmicSequence analysisAdd BLAST80
Transmembranei81 – 103Helical; Name=1PROSITE-ProRule annotationAdd BLAST23
Topological domaini104 – 117ExtracellularSequence analysisAdd BLAST14
Transmembranei118 – 138Helical; Name=2PROSITE-ProRule annotationAdd BLAST21
Topological domaini139 – 194CytoplasmicSequence analysisAdd BLAST56
Transmembranei195 – 215Helical; Name=3PROSITE-ProRule annotationAdd BLAST21
Topological domaini216 – 220ExtracellularSequence analysis5
Transmembranei221 – 241Helical; Name=4PROSITE-ProRule annotationAdd BLAST21
Topological domaini242 – 307CytoplasmicSequence analysisAdd BLAST66
Transmembranei308 – 328Helical; Name=5PROSITE-ProRule annotationAdd BLAST21
Topological domaini329 – 330ExtracellularSequence analysis2
Transmembranei331 – 350Helical; Name=6PROSITE-ProRule annotationAdd BLAST20
Topological domaini351 – 859CytoplasmicSequence analysisAdd BLAST509
Transmembranei860 – 880Helical; Name=7PROSITE-ProRule annotationAdd BLAST21
Topological domaini881 – 911ExtracellularSequence analysisAdd BLAST31
Transmembranei912 – 932Helical; Name=8PROSITE-ProRule annotationAdd BLAST21
Topological domaini933 – 990CytoplasmicSequence analysisAdd BLAST58
Transmembranei991 – 1011Helical; Name=9PROSITE-ProRule annotationAdd BLAST21
Topological domaini1012 – 1013ExtracellularSequence analysis2
Transmembranei1014 – 1034Helical; Name=10PROSITE-ProRule annotationAdd BLAST21
Topological domaini1035 – 1102CytoplasmicSequence analysisAdd BLAST68
Transmembranei1103 – 1123Helical; Name=11PROSITE-ProRule annotationAdd BLAST21
Topological domaini1124 – 1128ExtracellularSequence analysis5
Transmembranei1129 – 1149Helical; Name=12PROSITE-ProRule annotationAdd BLAST21
Topological domaini1150 – 1480CytoplasmicSequence analysisAdd BLAST331

GO - Cellular componenti

  • apical plasma membrane Source: UniProtKB
  • basolateral plasma membrane Source: UniProtKB
  • cell surface Source: UniProtKB
  • chloride channel complex Source: UniProtKB-KW
  • clathrin-coated vesicle membrane Source: Reactome
  • cytoplasm Source: UniProtKB
  • cytosol Source: UniProtKB
  • early endosome Source: UniProtKB
  • early endosome membrane Source: UniProtKB-SubCell
  • endoplasmic reticulum membrane Source: Reactome
  • endosome membrane Source: Reactome
  • extracellular exosome Source: UniProtKB
  • Golgi-associated vesicle membrane Source: Reactome
  • integral component of plasma membrane Source: GO_Central
  • lysosomal membrane Source: Reactome
  • plasma membrane Source: UniProtKB
  • protein complex Source: UniProtKB
  • recycling endosome Source: UniProtKB

Keywords - Cellular componenti

Cell membrane, Endosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Cystic fibrosis (CF)46 Publications
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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00010113S → F in CF. 1 PublicationCorresponds to variant dbSNP:rs397508635Ensembl.1
Natural variantiVAR_00010331R → L in CF. 1 PublicationCorresponds to variant dbSNP:rs149353983Ensembl.1
Natural variantiVAR_00010442S → F in CF. 1 PublicationCorresponds to variant dbSNP:rs143456784Ensembl.1
Natural variantiVAR_00010544D → G in CF. Corresponds to variant dbSNP:rs1800074Ensembl.1
Natural variantiVAR_00010857W → G in CF. 1 PublicationCorresponds to variant dbSNP:rs397508272Ensembl.1
Natural variantiVAR_00010967P → L in CF. Corresponds to variant dbSNP:rs368505753Ensembl.1
Natural variantiVAR_00011074R → W in CF. Corresponds to variant dbSNP:rs115545701Ensembl.1
Natural variantiVAR_00011285G → E in CF. 1 PublicationCorresponds to variant dbSNP:rs75961395Ensembl.1
Natural variantiVAR_00011387F → L in CF. 1 PublicationCorresponds to variant dbSNP:rs397508403Ensembl.1
Natural variantiVAR_00011491G → R in CF. Corresponds to variant dbSNP:rs121908750Ensembl.1
Natural variantiVAR_00011592E → K in CF. 2 PublicationsCorresponds to variant dbSNP:rs121908751Ensembl.1
Natural variantiVAR_00011698Q → R in CF. 1 PublicationCorresponds to variant dbSNP:rs397508464Ensembl.1
Natural variantiVAR_000117105I → S in CF. 1
Natural variantiVAR_000118109Y → C in CF. 1 PublicationCorresponds to variant dbSNP:rs121909031Ensembl.1
Natural variantiVAR_000119110D → H in CF. Corresponds to variant dbSNP:rs113993958Ensembl.1
Natural variantiVAR_000121117R → C in CF. 1 PublicationCorresponds to variant dbSNP:rs77834169Ensembl.1
Natural variantiVAR_000122117R → H in CF and CBAVD. 1 PublicationCorresponds to variant dbSNP:rs78655421Ensembl.1
Natural variantiVAR_000123117R → L in CF. 1 PublicationCorresponds to variant dbSNP:rs78655421Ensembl.1
Natural variantiVAR_000124117R → P in CF. 1 PublicationCorresponds to variant dbSNP:rs78655421Ensembl.1
Natural variantiVAR_000125120A → T in CF. 1 PublicationCorresponds to variant dbSNP:rs201958172Ensembl.1
Natural variantiVAR_000126139H → R in CF. 1 PublicationCorresponds to variant dbSNP:rs76371115Ensembl.1
Natural variantiVAR_000127141A → D in CF. 1 PublicationCorresponds to variant dbSNP:rs397508700Ensembl.1
Natural variantiVAR_000128148I → T in CF. Corresponds to variant dbSNP:rs35516286Ensembl.1
Natural variantiVAR_000130178G → R in CF. Corresponds to variant dbSNP:rs80282562Ensembl.1
Natural variantiVAR_000131192Missing in CF. 1 Publication1
Natural variantiVAR_000132193E → K in CBAVD and CF. 2 PublicationsCorresponds to variant dbSNP:rs397508759Ensembl.1
Natural variantiVAR_000133199H → Q in CF. Corresponds to variant dbSNP:rs397508765Ensembl.1
Natural variantiVAR_000134199H → Y in CF. 1 PublicationCorresponds to variant dbSNP:rs121908802Ensembl.1
Natural variantiVAR_000135205P → S in CF. 1 PublicationCorresponds to variant dbSNP:rs121908803Ensembl.1
Natural variantiVAR_000136206L → W in CF. 1 PublicationCorresponds to variant dbSNP:rs121908752Ensembl.1
Natural variantiVAR_000137225C → R in CF. Corresponds to variant dbSNP:rs397508780Ensembl.1
Natural variantiVAR_000140287N → Y in CF. 1 PublicationCorresponds to variant dbSNP:rs397508804Ensembl.1
Natural variantiVAR_000141297R → Q in CF. Corresponds to variant dbSNP:rs143486492Ensembl.1
Natural variantiVAR_000142301Y → C in CF. Corresponds to variant dbSNP:rs150691494Ensembl.1
Natural variantiVAR_000143307S → N in CF. Corresponds to variant dbSNP:rs397508817Ensembl.1
Natural variantiVAR_000144311F → L in CF. Corresponds to variant dbSNP:rs121909016Ensembl.1
Natural variantiVAR_000145311Missing in CF. 1 Publication1
Natural variantiVAR_000146314G → E in CF. Corresponds to variant dbSNP:rs75763344Ensembl.1
Natural variantiVAR_000147314G → R in CF. 1 PublicationCorresponds to variant dbSNP:rs397508819Ensembl.1
Natural variantiVAR_000148334R → W in CF; mild. Corresponds to variant dbSNP:rs121909011Ensembl.1
Natural variantiVAR_000150336I → K in CF. Corresponds to variant dbSNP:rs397508139Ensembl.1
Natural variantiVAR_000151338T → I in CF; mild; isolated hypotonic dehydration. 2 PublicationsCorresponds to variant dbSNP:rs77409459Ensembl.1
Natural variantiVAR_000152346L → P in CF; dominant mutation but mild phenotype. 1 PublicationCorresponds to variant dbSNP:rs397508146Ensembl.1
Natural variantiVAR_000153347R → H in CF. Corresponds to variant dbSNP:rs77932196Ensembl.1
Natural variantiVAR_000154347R → L in CF. Corresponds to variant dbSNP:rs77932196Ensembl.1
Natural variantiVAR_000155347R → P in CF; MILD. Corresponds to variant dbSNP:rs77932196Ensembl.1
Natural variantiVAR_000156352R → Q in CF. Corresponds to variant dbSNP:rs121908753Ensembl.1
Natural variantiVAR_000158359 – 360QT → KK in CF. Corresponds to variant dbSNP:rs397508152Ensembl.2
Natural variantiVAR_000157359Q → K in CF. Corresponds to variant dbSNP:rs76879328Ensembl.1
Natural variantiVAR_000159370K → KNK in CF. 1 Publication1
Natural variantiVAR_000160455A → E in CF. 1 PublicationCorresponds to variant dbSNP:rs74551128Ensembl.1
Natural variantiVAR_000161456V → F in CF. Corresponds to variant dbSNP:rs397508195Ensembl.1
Natural variantiVAR_000162458G → V in CF. Corresponds to variant dbSNP:rs121909009Ensembl.1
Natural variantiVAR_000165480G → C in CF. Corresponds to variant dbSNP:rs79282516Ensembl.1
Natural variantiVAR_000166492S → F in CF. Corresponds to variant dbSNP:rs121909017Ensembl.1
Natural variantiVAR_000167504E → Q in CF. Corresponds to variant dbSNP:rs397508223Ensembl.1
Natural variantiVAR_000170507Missing in CF. 1
Natural variantiVAR_000171508Missing in CF and CBAVD; most common mutation; 72% of the population; CFTR fails to be properly delivered to plasma membrane. 1
Natural variantiVAR_000174520V → F in CF. 1 PublicationCorresponds to variant dbSNP:rs77646904Ensembl.1
Natural variantiVAR_000177549S → I in CF. Corresponds to variant dbSNP:rs121908755Ensembl.1
Natural variantiVAR_000176549S → N in CF. Corresponds to variant dbSNP:rs121908755Ensembl.1
Natural variantiVAR_000178549S → R in CF. Corresponds to variant dbSNP:rs121909005Ensembl.1
Natural variantiVAR_000179551G → D in CF. 1 PublicationCorresponds to variant dbSNP:rs75527207Ensembl.1
Natural variantiVAR_000180551G → S in CF. Corresponds to variant dbSNP:rs121909013Ensembl.1
Natural variantiVAR_000181553R → Q in CF. Corresponds to variant dbSNP:rs121909044Ensembl.1
Natural variantiVAR_000182558L → S in CF. Corresponds to variant dbSNP:rs193922504Ensembl.1
Natural variantiVAR_000183559A → T in CF. Corresponds to variant dbSNP:rs75549581Ensembl.1
Natural variantiVAR_000184560R → K in CF. Corresponds to variant dbSNP:rs80055610Ensembl.1
Natural variantiVAR_000185560R → S in CF. 1 PublicationCorresponds to variant dbSNP:rs397508267Ensembl.1
Natural variantiVAR_000186560R → T in CF. Corresponds to variant dbSNP:rs80055610Ensembl.1
Natural variantiVAR_000188562V → L in CF. 1 PublicationCorresponds to variant dbSNP:rs1800097Ensembl.1
Natural variantiVAR_000189563Y → N in CF. Corresponds to variant dbSNP:rs121909006Ensembl.1
Natural variantiVAR_000190569Y → C in CF. 1 PublicationCorresponds to variant dbSNP:rs397508277Ensembl.1
Natural variantiVAR_000191569Y → D in CF. 1 PublicationCorresponds to variant dbSNP:rs397508276Ensembl.1
Natural variantiVAR_000192569Y → H in CF. Corresponds to variant dbSNP:rs397508276Ensembl.1
Natural variantiVAR_000193571L → S in CF. Corresponds to variant dbSNP:rs397508280Ensembl.1
Natural variantiVAR_000194572D → N in CF. 1 PublicationCorresponds to variant dbSNP:rs397508282Ensembl.1
Natural variantiVAR_000195574P → H in CF. Corresponds to variant dbSNP:rs121908758Ensembl.1
Natural variantiVAR_000197579D → G in CF. 2 PublicationsCorresponds to variant dbSNP:rs397508288Ensembl.1
Natural variantiVAR_000198601I → F in CF. Corresponds to variant dbSNP:rs397508306Ensembl.1
Natural variantiVAR_000199610L → S in CF. Corresponds to variant dbSNP:rs397508311Ensembl.1
Natural variantiVAR_000200613A → T in CF. Corresponds to variant dbSNP:rs201978662Ensembl.1
Natural variantiVAR_000201614D → G in CF. Corresponds to variant dbSNP:rs201124247Ensembl.1
Natural variantiVAR_000202618I → T in CF. Corresponds to variant dbSNP:rs139468767Ensembl.1
Natural variantiVAR_000203619L → S in CF. 1 PublicationCorresponds to variant dbSNP:rs397508313Ensembl.1
Natural variantiVAR_000204620H → P in CF. Corresponds to variant dbSNP:rs397508314Ensembl.1
Natural variantiVAR_000205620H → Q in CF. Corresponds to variant dbSNP:rs397508315Ensembl.1
Natural variantiVAR_000207628G → R in CF. Corresponds to variant dbSNP:rs397508316Ensembl.1
Natural variantiVAR_000208633L → P in CF. Corresponds to variant dbSNP:rs397508318Ensembl.1
Natural variantiVAR_000209648D → V in CF. Corresponds to variant dbSNP:rs121909033Ensembl.1
Natural variantiVAR_000210651D → N in CF. Corresponds to variant dbSNP:rs780526529Ensembl.1
Natural variantiVAR_000211665T → S in CF. 1 Publication1
Natural variantiVAR_000214754V → M in CF. Corresponds to variant dbSNP:rs150157202Ensembl.1
Natural variantiVAR_000219822E → K in CF. Corresponds to variant dbSNP:rs397508378Ensembl.1
Natural variantiVAR_000221866C → Y in CF. Corresponds to variant dbSNP:rs193922506Ensembl.1
Natural variantiVAR_000223913Y → C in CF. Corresponds to variant dbSNP:rs121909008Ensembl.1
Natural variantiVAR_000224917Y → C in CF. Corresponds to variant dbSNP:rs397508428Ensembl.1
Natural variantiVAR_000225949H → Y in CF. 1 PublicationCorresponds to variant dbSNP:rs121909035Ensembl.1
Natural variantiVAR_000226952M → I in CF. Corresponds to variant dbSNP:rs151048781Ensembl.1
Natural variantiVAR_000227997L → F in CF. Corresponds to variant dbSNP:rs1800111Ensembl.1
Natural variantiVAR_0002281005I → R in CF. 1 PublicationCorresponds to variant dbSNP:rs397508479Ensembl.1
Natural variantiVAR_0002291006A → E in CF. 1 PublicationCorresponds to variant dbSNP:rs397508480Ensembl.1
Natural variantiVAR_0002301013P → L in CF. 1 PublicationCorresponds to variant dbSNP:rs193922516Ensembl.1
Natural variantiVAR_0002311028M → I in CF. 1 PublicationCorresponds to variant dbSNP:rs200553511Ensembl.1
Natural variantiVAR_0002321052F → V in CF. 1 PublicationCorresponds to variant dbSNP:rs150212784Ensembl.1
Natural variantiVAR_0002331061G → R in CF. 2 PublicationsCorresponds to variant dbSNP:rs142394380Ensembl.1
Natural variantiVAR_0002341065L → P in CF. 1 PublicationCorresponds to variant dbSNP:rs121909036Ensembl.1
Natural variantiVAR_0002351065L → R in CF. 1 PublicationCorresponds to variant dbSNP:rs121909036Ensembl.1
Natural variantiVAR_0002361066R → C in CF. 1 PublicationCorresponds to variant dbSNP:rs78194216Ensembl.1
Natural variantiVAR_0002371066R → H in CF. Corresponds to variant dbSNP:rs121909019Ensembl.1
Natural variantiVAR_0002381066R → L in CF. 1 PublicationCorresponds to variant dbSNP:rs121909019Ensembl.1
Natural variantiVAR_0002391067A → T in CF. Corresponds to variant dbSNP:rs121909020Ensembl.1
Natural variantiVAR_0002421070R → P in CF. 1 PublicationCorresponds to variant dbSNP:rs78769542Ensembl.1
Natural variantiVAR_0002411070R → Q in CF. 1 PublicationCorresponds to variant dbSNP:rs78769542Ensembl.1
Natural variantiVAR_0002431071Q → P in CF. 1 PublicationCorresponds to variant dbSNP:rs121909037Ensembl.1
Natural variantiVAR_0002441072P → L in CF. 1
Natural variantiVAR_0002451077L → P in CF. Corresponds to variant dbSNP:rs139304906Ensembl.1
Natural variantiVAR_0002461085H → R in CF. 1 PublicationCorresponds to variant dbSNP:rs79635528Ensembl.1
Natural variantiVAR_0002471098W → R in CF. 1 PublicationCorresponds to variant dbSNP:rs397508531Ensembl.1
Natural variantiVAR_0002481101M → K in CF. 1 PublicationCorresponds to variant dbSNP:rs36210737Ensembl.1
Natural variantiVAR_0115651101M → R in CF. 1 PublicationCorresponds to variant dbSNP:rs36210737Ensembl.1
Natural variantiVAR_0002491137M → V in CF. Corresponds to variant dbSNP:rs397508553Ensembl.1
Natural variantiVAR_0002501140Missing in CF. 1 Publication1
Natural variantiVAR_0002511152D → H in CF. Corresponds to variant dbSNP:rs75541969Ensembl.1
Natural variantiVAR_0002541234I → V in CF. Corresponds to variant dbSNP:rs75389940Ensembl.1
Natural variantiVAR_0002551235S → R in CF. Corresponds to variant dbSNP:rs34911792Ensembl.1
Natural variantiVAR_0002561244G → E in CF. Corresponds to variant dbSNP:rs267606723Ensembl.1
Natural variantiVAR_0002571249G → E in CF. 1 PublicationCorresponds to variant dbSNP:rs121909040Ensembl.1
Natural variantiVAR_0002581251S → N in CF. Corresponds to variant dbSNP:rs74503330Ensembl.1
Natural variantiVAR_0002591255S → P in CF. 1 PublicationCorresponds to variant dbSNP:rs121909041Ensembl.1
Natural variantiVAR_0002601270D → N in CF. Corresponds to variant dbSNP:rs11971167Ensembl.1
Natural variantiVAR_0002611282W → R in CF. Corresponds to variant dbSNP:rs397508616Ensembl.1
Natural variantiVAR_0002621283R → M in CF. 1 PublicationCorresponds to variant dbSNP:rs77902683Ensembl.1
Natural variantiVAR_0002631286F → S in CF. Corresponds to variant dbSNP:rs121909028Ensembl.1
Natural variantiVAR_0002641291Q → H in CF. 1 PublicationCorresponds to variant dbSNP:rs121909015Ensembl.1
Natural variantiVAR_0002651291Q → R in CF. 1 PublicationCorresponds to variant dbSNP:rs397508621Ensembl.1
Natural variantiVAR_0002661303N → H in CF. Corresponds to variant dbSNP:rs121909042Ensembl.1
Natural variantiVAR_0002671303N → K in CF. 1 PublicationCorresponds to variant dbSNP:rs80034486Ensembl.1
Natural variantiVAR_0002681349G → D in CF. Corresponds to variant dbSNP:rs193922525Ensembl.1
Natural variantiVAR_0002701397V → E in CF. 1 PublicationCorresponds to variant dbSNP:rs397508691Ensembl.1
Congenital bilateral absence of the vas deferens (CBAVD)5 Publications
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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00010750S → Y in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs397508220Ensembl.1
Natural variantiVAR_000120111P → L in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs140502196Ensembl.1
Natural variantiVAR_000122117R → H in CF and CBAVD. 1 PublicationCorresponds to variant dbSNP:rs78655421Ensembl.1
Natural variantiVAR_000129149G → R in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs397508718Ensembl.1
Natural variantiVAR_000132193E → K in CBAVD and CF. 2 PublicationsCorresponds to variant dbSNP:rs397508759Ensembl.1
Natural variantiVAR_000138244M → K in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs397508790Ensembl.1
Natural variantiVAR_000139258R → G in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs191456345Ensembl.1
Natural variantiVAR_000171508Missing in CF and CBAVD; most common mutation; 72% of the population; CFTR fails to be properly delivered to plasma membrane. 1
Natural variantiVAR_000173513D → G in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs397508225Ensembl.1
Natural variantiVAR_000175544G → V in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs397508241Ensembl.1
Natural variantiVAR_000215766R → M in CBAVD. Corresponds to variant dbSNP:rs397508363Ensembl.1
Natural variantiVAR_000216792R → G in CBAVD. Corresponds to variant dbSNP:rs145449046Ensembl.1
Natural variantiVAR_000217800A → G in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs397508373Ensembl.1
Natural variantiVAR_000218807I → M in CBAVD. Corresponds to variant dbSNP:rs1800103Ensembl.1
Natural variantiVAR_0115641070R → W in CBAVD. Corresponds to variant dbSNP:rs202179988Ensembl.1
Natural variantiVAR_0002691364A → V in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs397508670Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1080.
MalaCardsiCFTR.
MIMi219700. phenotype.
277180. phenotype.
OpenTargetsiENSG00000001626.
Orphaneti48. Congenital bilateral absence of vas deferens.
586. Cystic fibrosis.
676. Hereditary chronic pancreatitis.
60033. Idiopathic bronchiectasis.
399805. Male infertility with azoospermia or oligozoospermia due to single gene mutation.
PharmGKBiPA109.

Chemistry databases

ChEMBLiCHEMBL4051.
DrugBankiDB00887. Bumetanide.
DB04941. Crofelemer.
DB01016. Glyburide.
DB01050. Ibuprofen.
DB08820. Ivacaftor.
DB09280. Lumacaftor.
DB04395. Phosphoaminophosphonic Acid-Adenylate Ester.
DB04522. Phosphonoserine.
GuidetoPHARMACOLOGYi707.

Polymorphism and mutation databases

BioMutaiCFTR.
DMDMi147744553.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000934191 – 1480Cystic fibrosis transmembrane conductance regulatorAdd BLAST1480

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi524S-palmitoyl cysteine1 Publication1
Modified residuei549PhosphoserineCombined sources1
Modified residuei660Phosphoserine; by PKA3 Publications1
Modified residuei686Phosphoserine; by PKC2 Publications1
Cross-linki688Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Modified residuei700Phosphoserine; by PKA3 Publications1
Modified residuei712Phosphoserine; by PKA2 Publications1
Modified residuei717Phosphothreonine1 Publication1
Modified residuei737Phosphoserine; by PKA3 Publications1
Modified residuei753Phosphoserine; by PKA1 Publication1
Modified residuei768Phosphoserine; by PKA2 Publications1
Modified residuei790Phosphoserine; by PKC1 Publication1
Modified residuei795Phosphoserine; by PKA3 Publications1
Modified residuei813Phosphoserine; by PKA2 Publications1
Glycosylationi894N-linked (GlcNAc...)1 Publication1
Glycosylationi900N-linked (GlcNAc...)1 Publication1
Lipidationi1395S-palmitoyl cysteine1 Publication1
Modified residuei1444Phosphoserine1 Publication1
Modified residuei1456Phosphoserine1 Publication1

Post-translational modificationi

Phosphorylated; activates the channel. It is not clear whether PKC phosphorylation itself activates the channel or permits activation by phosphorylation at PKA sites. Phosphorylated by AMPK.5 Publications
Ubiquitinated, leading to its degradation in the lysosome. Deubiquitination by USP10 in early endosomes, enhances its endocytic recycling. Ubiquitinated by RNF185 during ER stress.3 Publications

Keywords - PTMi

Glycoprotein, Isopeptide bond, Lipoprotein, Palmitate, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbiP13569.
PeptideAtlasiP13569.
PRIDEiP13569.

PTM databases

iPTMnetiP13569.
PhosphoSitePlusiP13569.
SwissPalmiP13569.

Expressioni

Tissue specificityi

Expressed in the respiratory airway, including bronchial epithelium, and in the female reproductive tract, including oviduct (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000001626.
CleanExiHS_CFTR.
ExpressionAtlasiP13569. baseline and differential.
GenevisibleiP13569. HS.

Organism-specific databases

HPAiCAB001951.
HPA021939.

Interactioni

Subunit structurei

Interacts with SLC26A3, SLC26A6 and SHANK2 (By similarity). Interacts with SLC9A3R1, MYO6 and GOPC. Interacts with SLC4A7 through SLC9A3R1. Found in a complex with MYO5B and RAB11A. Interacts with ANO1. Interacts with SLC26A8. Interacts with AHCYL1; the interaction increases CFTR activity (By similarity).By similarity7 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • enzyme binding Source: UniProtKB
  • PDZ domain binding Source: UniProtKB

Protein-protein interaction databases

BioGridi107506. 274 interactors.
DIPiDIP-32788N.
IntActiP13569. 138 interactors.
MINTiMINT-148539.
STRINGi9606.ENSP00000003084.

Chemistry databases

BindingDBiP13569.

Structurei

Secondary structure

11480
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi11 – 19Combined sources9
Beta strandi390 – 399Combined sources10
Helixi403 – 411Combined sources9
Helixi414 – 417Combined sources4
Helixi433 – 436Combined sources4
Beta strandi440 – 449Combined sources10
Beta strandi453 – 457Combined sources5
Helixi464 – 471Combined sources8
Beta strandi478 – 484Combined sources7
Beta strandi488 – 491Combined sources4
Beta strandi499 – 501Combined sources3
Helixi502 – 507Combined sources6
Helixi514 – 523Combined sources10
Helixi527 – 530Combined sources4
Beta strandi533 – 535Combined sources3
Helixi536 – 538Combined sources3
Beta strandi540 – 542Combined sources3
Helixi550 – 563Combined sources14
Beta strandi567 – 573Combined sources7
Turni574 – 577Combined sources4
Helixi580 – 589Combined sources10
Helixi590 – 594Combined sources5
Turni595 – 597Combined sources3
Beta strandi598 – 603Combined sources6
Helixi607 – 612Combined sources6
Beta strandi614 – 620Combined sources7
Beta strandi623 – 628Combined sources6
Helixi630 – 634Combined sources5
Helixi640 – 644Combined sources5
Helixi650 – 652Combined sources3
Helixi655 – 669Combined sources15
Beta strandi1204 – 1207Combined sources4
Beta strandi1210 – 1223Combined sources14
Beta strandi1226 – 1234Combined sources9
Beta strandi1239 – 1245Combined sources7
Helixi1250 – 1258Combined sources9
Beta strandi1261 – 1271Combined sources11
Helixi1279 – 1284Combined sources6
Beta strandi1286 – 1290Combined sources5
Beta strandi1297 – 1299Combined sources3
Helixi1300 – 1304Combined sources5
Helixi1312 – 1321Combined sources10
Helixi1325 – 1328Combined sources4
Helixi1334 – 1336Combined sources3
Turni1341 – 1345Combined sources5
Helixi1348 – 1361Combined sources14
Beta strandi1366 – 1371Combined sources6
Helixi1372 – 1375Combined sources4
Helixi1378 – 1389Combined sources12
Turni1390 – 1394Combined sources5
Beta strandi1397 – 1400Combined sources4
Beta strandi1402 – 1404Combined sources3
Helixi1405 – 1407Combined sources3
Beta strandi1411 – 1417Combined sources7
Beta strandi1420 – 1426Combined sources7
Helixi1427 – 1432Combined sources6
Helixi1436 – 1441Combined sources6
Beta strandi1442 – 1445Combined sources4
Beta strandi1448 – 1458Combined sources11
Beta strandi1461 – 1465Combined sources5
Beta strandi1478 – 1480Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1NBDmodel-A425-638[»]
1XMIX-ray2.25A/B/C/D/E389-678[»]
1XMJX-ray2.30A389-677[»]
2BBOX-ray2.55A389-678[»]
2BBSX-ray2.05A/B389-677[»]
2BBTX-ray2.30A/B389-678[»]
2LOBNMR-B1473-1480[»]
2PZEX-ray1.70A/B387-646[»]
2PZFX-ray2.00A/B387-646[»]
2PZGX-ray1.80A/B375-646[»]
3GD7X-ray2.70A/B/C/D1193-1427[»]
3ISWX-ray2.80C5-20[»]
4WZ6X-ray2.05A389-678[»]
5D2DX-ray2.10C747-774[»]
5D3EX-ray2.75C/G/K762-801[»]
5U71electron microscopy3.87A5-1480[»]
5UAKelectron microscopy3.87A1-1480[»]
DisProtiDP00012.
ProteinModelPortaliP13569.
SMRiP13569.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP13569.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini81 – 365ABC transmembrane type-1 1PROSITE-ProRule annotationAdd BLAST285
Domaini423 – 646ABC transporter 1PROSITE-ProRule annotationAdd BLAST224
Domaini859 – 1155ABC transmembrane type-1 2PROSITE-ProRule annotationAdd BLAST297
Domaini1210 – 1443ABC transporter 2PROSITE-ProRule annotationAdd BLAST234

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi1478 – 1480PDZ-binding3

Domaini

The PDZ-binding motif mediates interactions with GOPC and with the SLC4A7, SLC9A3R1/EBP50 complex.

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0054. Eukaryota.
COG1132. LUCA.
GeneTreeiENSGT00860000133687.
HOVERGENiHBG004169.
InParanoidiP13569.
KOiK05031.
OMAiNALRRCF.
OrthoDBiEOG091G00K4.
PhylomeDBiP13569.
TreeFamiTF105200.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiView protein in InterPro
IPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR009147. CFTR/ABCC7.
IPR025837. CFTR_reg_dom.
IPR027417. P-loop_NTPase.
PANTHERiPTHR24223:SF273. PTHR24223:SF273. 1 hit.
PfamiView protein in Pfam
PF00664. ABC_membrane. 2 hits.
PF00005. ABC_tran. 2 hits.
PF14396. CFTR_R. 1 hit.
PRINTSiPR01851. CYSFIBREGLTR.
SMARTiView protein in SMART
SM00382. AAA. 2 hits.
SUPFAMiSSF52540. SSF52540. 2 hits.
SSF90123. SSF90123. 2 hits.
TIGRFAMsiTIGR01271. CFTR_protein. 1 hit.
PROSITEiView protein in PROSITE
PS50929. ABC_TM1F. 2 hits.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P13569-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS
60 70 80 90 100
EKLEREWDRE LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL
110 120 130 140 150
LLGRIIASYD PDNKEERSIA IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM
160 170 180 190 200
QMRIAMFSLI YKKTLKLSSR VLDKISIGQL VSLLSNNLNK FDEGLALAHF
210 220 230 240 250
VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL GRMMMKYRDQ
260 270 280 290 300
RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA
310 320 330 340 350
YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV
360 370 380 390 400
TRQFPWAVQT WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF
410 420 430 440 450
WEEGFGELFE KAKQNNNNRK TSNGDDSLFF SNFSLLGTPV LKDINFKIER
460 470 480 490 500
GQLLAVAGST GAGKTSLLMV IMGELEPSEG KIKHSGRISF CSQFSWIMPG
510 520 530 540 550
TIKENIIFGV SYDEYRYRSV IKACQLEEDI SKFAEKDNIV LGEGGITLSG
560 570 580 590 600
GQRARISLAR AVYKDADLYL LDSPFGYLDV LTEKEIFESC VCKLMANKTR
610 620 630 640 650
ILVTSKMEHL KKADKILILH EGSSYFYGTF SELQNLQPDF SSKLMGCDSF
660 670 680 690 700
DQFSAERRNS ILTETLHRFS LEGDAPVSWT ETKKQSFKQT GEFGEKRKNS
710 720 730 740 750
ILNPINSIRK FSIVQKTPLQ MNGIEEDSDE PLERRLSLVP DSEQGEAILP
760 770 780 790 800
RISVISTGPT LQARRRQSVL NLMTHSVNQG QNIHRKTTAS TRKVSLAPQA
810 820 830 840 850
NLTELDIYSR RLSQETGLEI SEEINEEDLK ECFFDDMESI PAVTTWNTYL
860 870 880 890 900
RYITVHKSLI FVLIWCLVIF LAEVAASLVV LWLLGNTPLQ DKGNSTHSRN
910 920 930 940 950
NSYAVIITST SSYYVFYIYV GVADTLLAMG FFRGLPLVHT LITVSKILHH
960 970 980 990 1000
KMLHSVLQAP MSTLNTLKAG GILNRFSKDI AILDDLLPLT IFDFIQLLLI
1010 1020 1030 1040 1050
VIGAIAVVAV LQPYIFVATV PVIVAFIMLR AYFLQTSQQL KQLESEGRSP
1060 1070 1080 1090 1100
IFTHLVTSLK GLWTLRAFGR QPYFETLFHK ALNLHTANWF LYLSTLRWFQ
1110 1120 1130 1140 1150
MRIEMIFVIF FIAVTFISIL TTGEGEGRVG IILTLAMNIM STLQWAVNSS
1160 1170 1180 1190 1200
IDVDSLMRSV SRVFKFIDMP TEGKPTKSTK PYKNGQLSKV MIIENSHVKK
1210 1220 1230 1240 1250
DDIWPSGGQM TVKDLTAKYT EGGNAILENI SFSISPGQRV GLLGRTGSGK
1260 1270 1280 1290 1300
STLLSAFLRL LNTEGEIQID GVSWDSITLQ QWRKAFGVIP QKVFIFSGTF
1310 1320 1330 1340 1350
RKNLDPYEQW SDQEIWKVAD EVGLRSVIEQ FPGKLDFVLV DGGCVLSHGH
1360 1370 1380 1390 1400
KQLMCLARSV LSKAKILLLD EPSAHLDPVT YQIIRRTLKQ AFADCTVILC
1410 1420 1430 1440 1450
EHRIEAMLEC QQFLVIEENK VRQYDSIQKL LNERSLFRQA ISPSDRVKLF
1460 1470 1480
PHRNSSKCKS KPQIAALKEE TEEEVQDTRL
Length:1,480
Mass (Da):168,142
Last modified:May 15, 2007 - v3
Checksum:i8D082AA2E768C065
GO
Isoform 2 (identifier: P13569-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     404-464: Missing.

Note: Exon skipping favored by a high number of TG repeats and a low number of T repeats at the intron-exon boundary. Causes congenital bilateral absence of the vas deferens (CBAVD).
Show »
Length:1,419
Mass (Da):161,596
Checksum:i898B37C8C61CC24A
GO
Isoform 3 (identifier: P13569-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     589-605: SCVCKLMANKTRILVTS → RRRCSCLLDRNKKTIF
     606-1480: Missing.

Note: Alternative acceptor site favored by mutation in an exonic splicing enhancer (ESE). Causes cystic fibrosis (CF).
Show »
Length:604
Mass (Da):69,230
Checksum:i6059582EE8505353
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti620H → N in AAA35680 (PubMed:2475911).Curated1
Sequence conflicti833F → L in AAA35680 (PubMed:2475911).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00010113S → F in CF. 1 PublicationCorresponds to variant dbSNP:rs397508635Ensembl.1
Natural variantiVAR_00010231R → C1 PublicationCorresponds to variant dbSNP:rs1800073Ensembl.1
Natural variantiVAR_00010331R → L in CF. 1 PublicationCorresponds to variant dbSNP:rs149353983Ensembl.1
Natural variantiVAR_00010442S → F in CF. 1 PublicationCorresponds to variant dbSNP:rs143456784Ensembl.1
Natural variantiVAR_00010544D → G in CF. Corresponds to variant dbSNP:rs1800074Ensembl.1
Natural variantiVAR_00010644D → V. Corresponds to variant dbSNP:rs1800074Ensembl.1
Natural variantiVAR_00010750S → Y in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs397508220Ensembl.1
Natural variantiVAR_00010857W → G in CF. 1 PublicationCorresponds to variant dbSNP:rs397508272Ensembl.1
Natural variantiVAR_00010967P → L in CF. Corresponds to variant dbSNP:rs368505753Ensembl.1
Natural variantiVAR_00011074R → W in CF. Corresponds to variant dbSNP:rs115545701Ensembl.1
Natural variantiVAR_00011175R → Q. Corresponds to variant dbSNP:rs1800076Ensembl.1
Natural variantiVAR_00011285G → E in CF. 1 PublicationCorresponds to variant dbSNP:rs75961395Ensembl.1
Natural variantiVAR_00011387F → L in CF. 1 PublicationCorresponds to variant dbSNP:rs397508403Ensembl.1
Natural variantiVAR_00011491G → R in CF. Corresponds to variant dbSNP:rs121908750Ensembl.1
Natural variantiVAR_00011592E → K in CF. 2 PublicationsCorresponds to variant dbSNP:rs121908751Ensembl.1
Natural variantiVAR_00011698Q → R in CF. 1 PublicationCorresponds to variant dbSNP:rs397508464Ensembl.1
Natural variantiVAR_000117105I → S in CF. 1
Natural variantiVAR_000118109Y → C in CF. 1 PublicationCorresponds to variant dbSNP:rs121909031Ensembl.1
Natural variantiVAR_000119110D → H in CF. Corresponds to variant dbSNP:rs113993958Ensembl.1
Natural variantiVAR_000120111P → L in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs140502196Ensembl.1
Natural variantiVAR_000121117R → C in CF. 1 PublicationCorresponds to variant dbSNP:rs77834169Ensembl.1
Natural variantiVAR_000122117R → H in CF and CBAVD. 1 PublicationCorresponds to variant dbSNP:rs78655421Ensembl.1
Natural variantiVAR_000123117R → L in CF. 1 PublicationCorresponds to variant dbSNP:rs78655421Ensembl.1
Natural variantiVAR_000124117R → P in CF. 1 PublicationCorresponds to variant dbSNP:rs78655421Ensembl.1
Natural variantiVAR_000125120A → T in CF. 1 PublicationCorresponds to variant dbSNP:rs201958172Ensembl.1
Natural variantiVAR_009895138L → P. Corresponds to variant dbSNP:rs1800078Ensembl.1
Natural variantiVAR_000126139H → R in CF. 1 PublicationCorresponds to variant dbSNP:rs76371115Ensembl.1
Natural variantiVAR_000127141A → D in CF. 1 PublicationCorresponds to variant dbSNP:rs397508700Ensembl.1
Natural variantiVAR_000128148I → T in CF. Corresponds to variant dbSNP:rs35516286Ensembl.1
Natural variantiVAR_000129149G → R in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs397508718Ensembl.1
Natural variantiVAR_009896170R → H. Corresponds to variant dbSNP:rs1800079Ensembl.1
Natural variantiVAR_000130178G → R in CF. Corresponds to variant dbSNP:rs80282562Ensembl.1
Natural variantiVAR_009897182S → G. Corresponds to variant dbSNP:rs1800080Ensembl.1
Natural variantiVAR_000131192Missing in CF. 1 Publication1
Natural variantiVAR_000132193E → K in CBAVD and CF. 2 PublicationsCorresponds to variant dbSNP:rs397508759Ensembl.1
Natural variantiVAR_000133199H → Q in CF. Corresponds to variant dbSNP:rs397508765Ensembl.1
Natural variantiVAR_000134199H → Y in CF. 1 PublicationCorresponds to variant dbSNP:rs121908802Ensembl.1
Natural variantiVAR_000135205P → S in CF. 1 PublicationCorresponds to variant dbSNP:rs121908803Ensembl.1
Natural variantiVAR_000136206L → W in CF. 1 PublicationCorresponds to variant dbSNP:rs121908752Ensembl.1
Natural variantiVAR_000137225C → R in CF. Corresponds to variant dbSNP:rs397508780Ensembl.1
Natural variantiVAR_000138244M → K in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs397508790Ensembl.1
Natural variantiVAR_000139258R → G in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs191456345Ensembl.1
Natural variantiVAR_000140287N → Y in CF. 1 PublicationCorresponds to variant dbSNP:rs397508804Ensembl.1
Natural variantiVAR_000141297R → Q in CF. Corresponds to variant dbSNP:rs143486492Ensembl.1
Natural variantiVAR_000142301Y → C in CF. Corresponds to variant dbSNP:rs150691494Ensembl.1
Natural variantiVAR_000143307S → N in CF. Corresponds to variant dbSNP:rs397508817Ensembl.1
Natural variantiVAR_000144311F → L in CF. Corresponds to variant dbSNP:rs121909016Ensembl.1
Natural variantiVAR_000145311Missing in CF. 1 Publication1
Natural variantiVAR_000146314G → E in CF. Corresponds to variant dbSNP:rs75763344Ensembl.1
Natural variantiVAR_000147314G → R in CF. 1 PublicationCorresponds to variant dbSNP:rs397508819Ensembl.1
Natural variantiVAR_009898322V → M. Corresponds to variant dbSNP:rs1800085Ensembl.1
Natural variantiVAR_000148334R → W in CF; mild. Corresponds to variant dbSNP:rs121909011Ensembl.1
Natural variantiVAR_000150336I → K in CF. Corresponds to variant dbSNP:rs397508139Ensembl.1
Natural variantiVAR_000151338T → I in CF; mild; isolated hypotonic dehydration. 2 PublicationsCorresponds to variant dbSNP:rs77409459Ensembl.1
Natural variantiVAR_000152346L → P in CF; dominant mutation but mild phenotype. 1 PublicationCorresponds to variant dbSNP:rs397508146Ensembl.1
Natural variantiVAR_000153347R → H in CF. Corresponds to variant dbSNP:rs77932196Ensembl.1
Natural variantiVAR_000154347R → L in CF. Corresponds to variant dbSNP:rs77932196Ensembl.1
Natural variantiVAR_000155347R → P in CF; MILD. Corresponds to variant dbSNP:rs77932196Ensembl.1
Natural variantiVAR_009899351T → S. Corresponds to variant dbSNP:rs1800086Ensembl.1
Natural variantiVAR_000156352R → Q in CF. Corresponds to variant dbSNP:rs121908753Ensembl.1
Natural variantiVAR_009900353Q → H. Corresponds to variant dbSNP:rs1800087Ensembl.1
Natural variantiVAR_000158359 – 360QT → KK in CF. Corresponds to variant dbSNP:rs397508152Ensembl.2
Natural variantiVAR_000157359Q → K in CF. Corresponds to variant dbSNP:rs76879328Ensembl.1
Natural variantiVAR_000159370K → KNK in CF. 1 Publication1
Natural variantiVAR_000160455A → E in CF. 1 PublicationCorresponds to variant dbSNP:rs74551128Ensembl.1
Natural variantiVAR_000161456V → F in CF. Corresponds to variant dbSNP:rs397508195Ensembl.1
Natural variantiVAR_000162458G → V in CF. Corresponds to variant dbSNP:rs121909009Ensembl.1
Natural variantiVAR_000163467L → F. Corresponds to variant dbSNP:rs1800089Ensembl.1
Natural variantiVAR_000164470V → M5 Publications