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P13569

- CFTR_HUMAN

UniProt

P13569 - CFTR_HUMAN

Protein

Cystic fibrosis transmembrane conductance regulator

Gene

CFTR

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 197 (01 Oct 2014)
      Sequence version 3 (15 May 2007)
      Previous versions | rss
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    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)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi458 – 4658ATP 1PROSITE-ProRule annotation
    Nucleotide bindingi1244 – 12518ATP 2PROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATP binding Source: ProtInc
    2. ATP-binding and phosphorylation-dependent chloride channel activity Source: ProtInc
    3. bicarbonate transmembrane transporter activity Source: UniProtKB
    4. channel-conductance-controlling ATPase activity Source: UniProtKB
    5. chloride channel activity Source: UniProtKB
    6. chloride channel inhibitor activity Source: UniProtKB
    7. chloride transmembrane transporter activity Source: UniProtKB
    8. enzyme binding Source: UniProtKB
    9. PDZ domain binding Source: UniProtKB
    10. protein binding Source: UniProtKB

    GO - Biological processi

    1. cellular response to cAMP Source: UniProtKB
    2. cellular response to hormone stimulus Source: Ensembl
    3. chloride transmembrane transport Source: GOC
    4. cholesterol biosynthetic process Source: Ensembl
    5. cholesterol transport Source: Ensembl
    6. intracellular pH elevation Source: UniProtKB
    7. iodide transport Source: Ensembl
    8. lung development Source: Ensembl
    9. membrane hyperpolarization Source: UniProtKB
    10. positive regulation of vasodilation Source: Ensembl
    11. positive regulation of voltage-gated chloride channel activity Source: UniProt
    12. respiratory gaseous exchange Source: ProtInc
    13. response to cytokine Source: Ensembl
    14. response to drug Source: Ensembl
    15. response to estrogen Source: Ensembl
    16. response to peptide hormone Source: Ensembl
    17. sperm capacitation Source: UniProtKB
    18. transepithelial chloride transport Source: Ensembl
    19. transmembrane transport Source: Reactome
    20. transport Source: ProtInc
    21. vasodilation Source: Ensembl
    22. water transport Source: Ensembl

    Keywords - Molecular functioni

    Chloride channel, Hydrolase, Ion channel

    Keywords - Biological processi

    Ion transport, Transport

    Keywords - Ligandi

    ATP-binding, Chloride, Nucleotide-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS00075-MONOMER.
    BRENDAi3.6.3.49. 2681.
    ReactomeiREACT_15480. ABC-family proteins mediated transport.

    Protein family/group databases

    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
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:1884. CFTR.

    Subcellular locationi

    Early endosome membrane; Multi-pass membrane protein. Cell membrane
    Note: In the oviduct and bronchus, detected on the apical side of epithelial cells, but not associated with cilia.1 Publication

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProtKB
    2. basolateral plasma membrane Source: UniProtKB
    3. cell surface Source: UniProtKB
    4. chloride channel complex Source: UniProtKB-KW
    5. cytoplasmic vesicle membrane Source: Ensembl
    6. early endosome Source: UniProtKB
    7. early endosome membrane Source: UniProtKB-SubCell
    8. extracellular vesicular exosome Source: UniProt
    9. microvillus Source: Ensembl
    10. plasma membrane Source: UniProtKB
    11. protein complex Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Endosome, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Cystic fibrosis (CF) [MIM:219700]: A 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.46 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti13 – 131S → F in CF. 1 Publication
    VAR_000101
    Natural varianti31 – 311R → L in CF. 1 Publication
    VAR_000103
    Natural varianti42 – 421S → F in CF. 1 Publication
    VAR_000104
    Natural varianti44 – 441D → G in CF.
    VAR_000105
    Natural varianti57 – 571W → G in CF. 1 Publication
    VAR_000108
    Natural varianti67 – 671P → L in CF.
    VAR_000109
    Natural varianti74 – 741R → W in CF.
    Corresponds to variant rs115545701 [ dbSNP | Ensembl ].
    VAR_000110
    Natural varianti85 – 851G → E in CF. 1 Publication
    VAR_000112
    Natural varianti87 – 871F → L in CF. 1 Publication
    VAR_000113
    Natural varianti91 – 911G → R in CF.
    VAR_000114
    Natural varianti92 – 921E → K in CF. 2 Publications
    VAR_000115
    Natural varianti98 – 981Q → R in CF. 1 Publication
    VAR_000116
    Natural varianti105 – 1051I → S in CF.
    VAR_000117
    Natural varianti109 – 1091Y → C in CF. 1 Publication
    VAR_000118
    Natural varianti110 – 1101D → H in CF.
    VAR_000119
    Natural varianti117 – 1171R → C in CF. 1 Publication
    VAR_000121
    Natural varianti117 – 1171R → H in CF and CBAVD. 1 Publication
    VAR_000122
    Natural varianti117 – 1171R → L in CF. 1 Publication
    VAR_000123
    Natural varianti117 – 1171R → P in CF. 1 Publication
    VAR_000124
    Natural varianti120 – 1201A → T in CF. 1 Publication
    VAR_000125
    Natural varianti139 – 1391H → R in CF. 1 Publication
    VAR_000126
    Natural varianti141 – 1411A → D in CF. 1 Publication
    VAR_000127
    Natural varianti148 – 1481I → T in CF.
    Corresponds to variant rs35516286 [ dbSNP | Ensembl ].
    VAR_000128
    Natural varianti178 – 1781G → R in CF.
    VAR_000130
    Natural varianti192 – 1921Missing in CF. 1 Publication
    VAR_000131
    Natural varianti193 – 1931E → K in CBAVD and CF. 2 Publications
    VAR_000132
    Natural varianti199 – 1991H → Q in CF.
    VAR_000133
    Natural varianti199 – 1991H → Y in CF. 1 Publication
    VAR_000134
    Natural varianti205 – 2051P → S in CF. 1 Publication
    VAR_000135
    Natural varianti206 – 2061L → W in CF. 1 Publication
    VAR_000136
    Natural varianti225 – 2251C → R in CF.
    VAR_000137
    Natural varianti287 – 2871N → Y in CF. 1 Publication
    VAR_000140
    Natural varianti297 – 2971R → Q in CF.
    VAR_000141
    Natural varianti301 – 3011Y → C in CF.
    Corresponds to variant rs150691494 [ dbSNP | Ensembl ].
    VAR_000142
    Natural varianti307 – 3071S → N in CF.
    VAR_000143
    Natural varianti311 – 3111F → L in CF.
    VAR_000144
    Natural varianti311 – 3111Missing in CF. 1 Publication
    VAR_000145
    Natural varianti314 – 3141G → E in CF.
    VAR_000146
    Natural varianti314 – 3141G → R in CF. 1 Publication
    VAR_000147
    Natural varianti334 – 3341R → W in CF; mild.
    Corresponds to variant rs121909011 [ dbSNP | Ensembl ].
    VAR_000148
    Natural varianti336 – 3361I → K in CF.
    VAR_000150
    Natural varianti338 – 3381T → I in CF; mild; isolated hypotonic dehydration. 2 Publications
    VAR_000151
    Natural varianti346 – 3461L → P in CF; dominant mutation but mild phenotype. 1 Publication
    VAR_000152
    Natural varianti347 – 3471R → H in CF.
    VAR_000153
    Natural varianti347 – 3471R → L in CF.
    VAR_000154
    Natural varianti347 – 3471R → P in CF; MILD.
    VAR_000155
    Natural varianti352 – 3521R → Q in CF.
    VAR_000156
    Natural varianti359 – 3602QT → KK in CF.
    VAR_000158
    Natural varianti359 – 3591Q → K in CF.
    VAR_000157
    Natural varianti370 – 3701K → KNK in CF. 1 Publication
    VAR_000159
    Natural varianti455 – 4551A → E in CF. 1 Publication
    VAR_000160
    Natural varianti456 – 4561V → F in CF.
    VAR_000161
    Natural varianti458 – 4581G → V in CF.
    VAR_000162
    Natural varianti480 – 4801G → C in CF.
    VAR_000165
    Natural varianti492 – 4921S → F in CF.
    VAR_000166
    Natural varianti504 – 5041E → Q in CF.
    VAR_000167
    Natural varianti507 – 5071Missing in CF.
    VAR_000170
    Natural varianti508 – 5081Missing in CF and CBAVD; most common mutation; 72% of the population; CFTR fails to be properly delivered to plasma membrane.
    VAR_000171
    Natural varianti520 – 5201V → F in CF. 1 Publication
    Corresponds to variant rs77646904 [ dbSNP | Ensembl ].
    VAR_000174
    Natural varianti549 – 5491S → I in CF.
    VAR_000177
    Natural varianti549 – 5491S → N in CF.
    VAR_000176
    Natural varianti549 – 5491S → R in CF.
    VAR_000178
    Natural varianti551 – 5511G → D in CF. 1 Publication
    VAR_000179
    Natural varianti551 – 5511G → S in CF.
    VAR_000180
    Natural varianti553 – 5531R → Q in CF.
    VAR_000181
    Natural varianti558 – 5581L → S in CF.
    VAR_000182
    Natural varianti559 – 5591A → T in CF.
    VAR_000183
    Natural varianti560 – 5601R → K in CF.
    VAR_000184
    Natural varianti560 – 5601R → S in CF. 1 Publication
    VAR_000185
    Natural varianti560 – 5601R → T in CF.
    VAR_000186
    Natural varianti562 – 5621V → L in CF. 1 Publication
    Corresponds to variant rs1800097 [ dbSNP | Ensembl ].
    VAR_000188
    Natural varianti563 – 5631Y → N in CF.
    VAR_000189
    Natural varianti569 – 5691Y → C in CF. 1 Publication
    VAR_000190
    Natural varianti569 – 5691Y → D in CF. 1 Publication
    VAR_000191
    Natural varianti569 – 5691Y → H in CF.
    VAR_000192
    Natural varianti571 – 5711L → S in CF.
    VAR_000193
    Natural varianti572 – 5721D → N in CF. 1 Publication
    VAR_000194
    Natural varianti574 – 5741P → H in CF.
    VAR_000195
    Natural varianti579 – 5791D → G in CF. 2 Publications
    VAR_000197
    Natural varianti601 – 6011I → F in CF.
    VAR_000198
    Natural varianti610 – 6101L → S in CF.
    VAR_000199
    Natural varianti613 – 6131A → T in CF.
    Corresponds to variant rs201978662 [ dbSNP | Ensembl ].
    VAR_000200
    Natural varianti614 – 6141D → G in CF.
    Corresponds to variant rs201124247 [ dbSNP | Ensembl ].
    VAR_000201
    Natural varianti618 – 6181I → T in CF.
    VAR_000202
    Natural varianti619 – 6191L → S in CF. 1 Publication
    VAR_000203
    Natural varianti620 – 6201H → P in CF.
    VAR_000204
    Natural varianti620 – 6201H → Q in CF.
    VAR_000205
    Natural varianti628 – 6281G → R in CF.
    VAR_000207
    Natural varianti633 – 6331L → P in CF.
    VAR_000208
    Natural varianti648 – 6481D → V in CF.
    VAR_000209
    Natural varianti651 – 6511D → N in CF.
    VAR_000210
    Natural varianti665 – 6651T → S in CF. 1 Publication
    VAR_000211
    Natural varianti754 – 7541V → M in CF.
    Corresponds to variant rs150157202 [ dbSNP | Ensembl ].
    VAR_000214
    Natural varianti822 – 8221E → K in CF.
    VAR_000219
    Natural varianti866 – 8661C → Y in CF.
    VAR_000221
    Natural varianti913 – 9131Y → C in CF.
    VAR_000223
    Natural varianti917 – 9171Y → C in CF.
    VAR_000224
    Natural varianti949 – 9491H → Y in CF. 1 Publication
    VAR_000225
    Natural varianti952 – 9521M → I in CF.
    VAR_000226
    Natural varianti997 – 9971L → F in CF.
    Corresponds to variant rs1800111 [ dbSNP | Ensembl ].
    VAR_000227
    Natural varianti1005 – 10051I → R in CF. 1 Publication
    VAR_000228
    Natural varianti1006 – 10061A → E in CF. 1 Publication
    VAR_000229
    Natural varianti1013 – 10131P → L in CF. 1 Publication
    VAR_000230
    Natural varianti1028 – 10281M → I in CF. 1 Publication
    VAR_000231
    Natural varianti1052 – 10521F → V in CF. 1 Publication
    VAR_000232
    Natural varianti1061 – 10611G → R in CF. 2 Publications
    Corresponds to variant rs142394380 [ dbSNP | Ensembl ].
    VAR_000233
    Natural varianti1065 – 10651L → P in CF. 1 Publication
    VAR_000234
    Natural varianti1065 – 10651L → R in CF. 1 Publication
    VAR_000235
    Natural varianti1066 – 10661R → C in CF. 1 Publication
    VAR_000236
    Natural varianti1066 – 10661R → H in CF.
    VAR_000237
    Natural varianti1066 – 10661R → L in CF. 1 Publication
    VAR_000238
    Natural varianti1067 – 10671A → T in CF.
    VAR_000239
    Natural varianti1070 – 10701R → P in CF. 1 Publication
    VAR_000242
    Natural varianti1070 – 10701R → Q in CF. 1 Publication
    VAR_000241
    Natural varianti1071 – 10711Q → P in CF. 1 Publication
    VAR_000243
    Natural varianti1072 – 10721P → L in CF.
    VAR_000244
    Natural varianti1077 – 10771L → P in CF.
    VAR_000245
    Natural varianti1085 – 10851H → R in CF. 1 Publication
    VAR_000246
    Natural varianti1098 – 10981W → R in CF. 1 Publication
    VAR_000247
    Natural varianti1101 – 11011M → K in CF. 1 Publication
    Corresponds to variant rs36210737 [ dbSNP | Ensembl ].
    VAR_000248
    Natural varianti1101 – 11011M → R in CF. 1 Publication
    VAR_011565
    Natural varianti1137 – 11371M → V in CF.
    VAR_000249
    Natural varianti1140 – 11401Missing in CF. 1 Publication
    VAR_000250
    Natural varianti1152 – 11521D → H in CF.
    VAR_000251
    Natural varianti1234 – 12341I → V in CF.
    VAR_000254
    Natural varianti1235 – 12351S → R in CF.
    Corresponds to variant rs34911792 [ dbSNP | Ensembl ].
    VAR_000255
    Natural varianti1244 – 12441G → E in CF.
    VAR_000256
    Natural varianti1249 – 12491G → E in CF. 1 Publication
    VAR_000257
    Natural varianti1251 – 12511S → N in CF.
    VAR_000258
    Natural varianti1255 – 12551S → P in CF. 1 Publication
    VAR_000259
    Natural varianti1270 – 12701D → N in CF.
    Corresponds to variant rs11971167 [ dbSNP | Ensembl ].
    VAR_000260
    Natural varianti1282 – 12821W → R in CF.
    VAR_000261
    Natural varianti1283 – 12831R → M in CF. 1 Publication
    VAR_000262
    Natural varianti1286 – 12861F → S in CF.
    VAR_000263
    Natural varianti1291 – 12911Q → H in CF. 1 Publication
    VAR_000264
    Natural varianti1291 – 12911Q → R in CF. 1 Publication
    VAR_000265
    Natural varianti1303 – 13031N → H in CF.
    VAR_000266
    Natural varianti1303 – 13031N → K in CF. 1 Publication
    Corresponds to variant rs80034486 [ dbSNP | Ensembl ].
    VAR_000267
    Natural varianti1349 – 13491G → D in CF.
    VAR_000268
    Natural varianti1397 – 13971V → E in CF. 1 Publication
    VAR_000270
    Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]: Important 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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti50 – 501S → Y in CBAVD. 1 Publication
    VAR_000107
    Natural varianti111 – 1111P → L in CBAVD. 1 Publication
    VAR_000120
    Natural varianti117 – 1171R → H in CF and CBAVD. 1 Publication
    VAR_000122
    Natural varianti149 – 1491G → R in CBAVD. 1 Publication
    VAR_000129
    Natural varianti193 – 1931E → K in CBAVD and CF. 2 Publications
    VAR_000132
    Natural varianti244 – 2441M → K in CBAVD. 1 Publication
    VAR_000138
    Natural varianti258 – 2581R → G in CBAVD. 1 Publication
    Corresponds to variant rs191456345 [ dbSNP | Ensembl ].
    VAR_000139
    Natural varianti508 – 5081Missing in CF and CBAVD; most common mutation; 72% of the population; CFTR fails to be properly delivered to plasma membrane.
    VAR_000171
    Natural varianti513 – 5131D → G in CBAVD. 1 Publication
    VAR_000173
    Natural varianti544 – 5441G → V in CBAVD. 1 Publication
    VAR_000175
    Natural varianti766 – 7661R → M in CBAVD.
    VAR_000215
    Natural varianti792 – 7921R → G in CBAVD.
    VAR_000216
    Natural varianti800 – 8001A → G in CBAVD. 1 Publication
    VAR_000217
    Natural varianti807 – 8071I → M in CBAVD.
    Corresponds to variant rs1800103 [ dbSNP | Ensembl ].
    VAR_000218
    Natural varianti1070 – 10701R → W in CBAVD.
    Corresponds to variant rs202179988 [ dbSNP | Ensembl ].
    VAR_011564
    Natural varianti1364 – 13641A → V in CBAVD. 1 Publication
    VAR_000269

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi219700. phenotype.
    277180. phenotype.
    Orphaneti48. Congenital bilateral absence of vas deferens.
    586. Cystic fibrosis.
    676. Hereditary chronic pancreatitis.
    60033. Idiopathic bronchiectasis.
    217034. Male infertility with normal virilization due to meiosis defect.
    PharmGKBiPA109.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 14801480Cystic fibrosis transmembrane conductance regulatorPRO_0000093419Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei291 – 2911Phosphothreonine1 Publication
    Lipidationi524 – 5241S-palmitoyl cysteine1 Publication
    Modified residuei549 – 5491Phosphoserine1 Publication
    Modified residuei660 – 6601Phosphoserine; by PKA3 Publications
    Modified residuei686 – 6861Phosphoserine; by PKC2 Publications
    Cross-linki688 – 688Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
    Modified residuei700 – 7001Phosphoserine; by PKA3 Publications
    Modified residuei712 – 7121Phosphoserine; by PKA2 Publications
    Modified residuei717 – 7171Phosphothreonine1 Publication
    Modified residuei737 – 7371Phosphoserine; by PKA3 Publications
    Modified residuei753 – 7531Phosphoserine; by PKA1 Publication
    Modified residuei768 – 7681Phosphoserine; by PKA2 Publications
    Modified residuei790 – 7901Phosphoserine; by PKC1 Publication
    Modified residuei795 – 7951Phosphoserine; by PKA3 Publications
    Modified residuei813 – 8131Phosphoserine; by PKA2 Publications
    Glycosylationi894 – 8941N-linked (GlcNAc...)1 Publication
    Glycosylationi900 – 9001N-linked (GlcNAc...)1 Publication
    Lipidationi1395 – 13951S-palmitoyl cysteine1 Publication
    Modified residuei1444 – 14441Phosphoserine1 Publication
    Modified residuei1456 – 14561Phosphoserine1 Publication

    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.6 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.
    PRIDEiP13569.

    PTM databases

    PhosphoSiteiP13569.

    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

    ArrayExpressiP13569.
    BgeeiP13569.
    CleanExiHS_CFTR.
    GenevestigatoriP13569.

    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.By similarity7 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    BCAP31P515723EBI-349854,EBI-77683
    CANXP278243EBI-349854,EBI-355947
    DERL1Q9BUN82EBI-349854,EBI-398977
    GORASP2Q9H8Y83EBI-349854,EBI-739467
    HSPA8P191202EBI-349854,EBI-907802From a different organism.
    KRT8P057877EBI-349854,EBI-297852
    LPAR2Q9HBW04EBI-349854,EBI-765995
    PDZK1Q5T2W12EBI-349854,EBI-349819
    RNF5Q999423EBI-349854,EBI-348482
    Shank2Q9QX742EBI-349854,EBI-397902From a different organism.
    SLC26A8Q96RN12EBI-349854,EBI-1792052
    SLC9A3R1O147455EBI-349854,EBI-349787
    SLC9A3R2Q155997EBI-349854,EBI-1149760

    Protein-protein interaction databases

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

    Structurei

    Secondary structure

    1
    1480
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi11 – 199
    Beta strandi390 – 39910
    Helixi403 – 4119
    Helixi433 – 4364
    Beta strandi440 – 44910
    Beta strandi453 – 4575
    Helixi464 – 4718
    Beta strandi478 – 4847
    Beta strandi488 – 4914
    Beta strandi499 – 5013
    Helixi502 – 5076
    Helixi514 – 52310
    Helixi527 – 5304
    Beta strandi533 – 5353
    Helixi536 – 5383
    Beta strandi540 – 5423
    Helixi550 – 56314
    Beta strandi567 – 5737
    Turni574 – 5774
    Helixi580 – 58910
    Helixi590 – 5945
    Turni595 – 5973
    Beta strandi598 – 6036
    Helixi607 – 6126
    Beta strandi614 – 6207
    Beta strandi623 – 6286
    Helixi630 – 6345
    Helixi640 – 6445
    Helixi650 – 6523
    Helixi655 – 66915
    Beta strandi1204 – 12074
    Beta strandi1210 – 122314
    Beta strandi1226 – 12349
    Beta strandi1239 – 12457
    Helixi1250 – 12589
    Beta strandi1261 – 127111
    Helixi1279 – 12846
    Beta strandi1286 – 12905
    Beta strandi1297 – 12993
    Helixi1300 – 13045
    Helixi1312 – 132110
    Helixi1325 – 13284
    Helixi1334 – 13363
    Turni1341 – 13455
    Helixi1348 – 136114
    Beta strandi1366 – 13716
    Helixi1372 – 13754
    Helixi1378 – 138912
    Turni1390 – 13945
    Beta strandi1397 – 14004
    Beta strandi1402 – 14043
    Helixi1405 – 14073
    Beta strandi1411 – 14177
    Beta strandi1420 – 14267
    Beta strandi1478 – 14803

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    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[»]
    DisProtiDP00012.
    ProteinModelPortaliP13569.
    SMRiP13569. Positions 87-738, 860-1470.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP13569.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 8080CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini104 – 11714ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini139 – 19456CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini216 – 2205ExtracellularSequence Analysis
    Topological domaini242 – 30766CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini329 – 3302ExtracellularSequence Analysis
    Topological domaini351 – 859509CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini881 – 91131ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini933 – 99058CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1012 – 10132ExtracellularSequence Analysis
    Topological domaini1035 – 110268CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1124 – 11285ExtracellularSequence Analysis
    Topological domaini1150 – 1480331CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei81 – 10323Helical; Name=1PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei118 – 13821Helical; Name=2PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei195 – 21521Helical; Name=3PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei221 – 24121Helical; Name=4PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei308 – 32821Helical; Name=5PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei331 – 35020Helical; Name=6PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei860 – 88021Helical; Name=7PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei912 – 93221Helical; Name=8PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei991 – 101121Helical; Name=9PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei1014 – 103421Helical; Name=10PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei1103 – 112321Helical; Name=11PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei1129 – 114921Helical; Name=12PROSITE-ProRule annotationAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini81 – 365285ABC transmembrane type-1 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini423 – 646224ABC transporter 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini859 – 1155297ABC transmembrane type-1 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini1210 – 1443234ABC transporter 2PROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi1478 – 14803PDZ-binding

    Domaini

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

    Sequence similaritiesi

    Contains 2 ABC transmembrane type-1 domains.PROSITE-ProRule annotation
    Contains 2 ABC transporter domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1132.
    HOVERGENiHBG004169.
    InParanoidiP13569.
    KOiK05031.
    OMAiTLAMNIM.
    OrthoDBiEOG7C2R0B.
    PhylomeDBiP13569.
    TreeFamiTF105200.

    Family and domain databases

    Gene3Di3.40.50.300. 2 hits.
    InterProiIPR003593. AAA+_ATPase.
    IPR011527. ABC1_TM_dom.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR001140. ABC_transptr_TM_dom.
    IPR005291. cAMP_cl_channel.
    IPR025837. CFTR_reg_dom.
    IPR009147. CysFib_conduc_TM.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF00664. ABC_membrane. 2 hits.
    PF00005. ABC_tran. 2 hits.
    PF14396. CFTR_R. 1 hit.
    [Graphical view]
    PRINTSiPR01851. CYSFIBREGLTR.
    SMARTiSM00382. AAA. 2 hits.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 2 hits.
    SSF90123. SSF90123. 2 hits.
    TIGRFAMsiTIGR01271. CFTR_protein. 1 hit.
    PROSITEiPS50929. ABC_TM1F. 2 hits.
    PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 2 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    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

    MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS     50
    EKLEREWDRE LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL 100
    LLGRIIASYD PDNKEERSIA IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM 150
    QMRIAMFSLI YKKTLKLSSR VLDKISIGQL VSLLSNNLNK FDEGLALAHF 200
    VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL GRMMMKYRDQ 250
    RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA 300
    YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV 350
    TRQFPWAVQT WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF 400
    WEEGFGELFE KAKQNNNNRK TSNGDDSLFF SNFSLLGTPV LKDINFKIER 450
    GQLLAVAGST GAGKTSLLMV IMGELEPSEG KIKHSGRISF CSQFSWIMPG 500
    TIKENIIFGV SYDEYRYRSV IKACQLEEDI SKFAEKDNIV LGEGGITLSG 550
    GQRARISLAR AVYKDADLYL LDSPFGYLDV LTEKEIFESC VCKLMANKTR 600
    ILVTSKMEHL KKADKILILH EGSSYFYGTF SELQNLQPDF SSKLMGCDSF 650
    DQFSAERRNS ILTETLHRFS LEGDAPVSWT ETKKQSFKQT GEFGEKRKNS 700
    ILNPINSIRK FSIVQKTPLQ MNGIEEDSDE PLERRLSLVP DSEQGEAILP 750
    RISVISTGPT LQARRRQSVL NLMTHSVNQG QNIHRKTTAS TRKVSLAPQA 800
    NLTELDIYSR RLSQETGLEI SEEINEEDLK ECFFDDMESI PAVTTWNTYL 850
    RYITVHKSLI FVLIWCLVIF LAEVAASLVV LWLLGNTPLQ DKGNSTHSRN 900
    NSYAVIITST SSYYVFYIYV GVADTLLAMG FFRGLPLVHT LITVSKILHH 950
    KMLHSVLQAP MSTLNTLKAG GILNRFSKDI AILDDLLPLT IFDFIQLLLI 1000
    VIGAIAVVAV LQPYIFVATV PVIVAFIMLR AYFLQTSQQL KQLESEGRSP 1050
    IFTHLVTSLK GLWTLRAFGR QPYFETLFHK ALNLHTANWF LYLSTLRWFQ 1100
    MRIEMIFVIF FIAVTFISIL TTGEGEGRVG IILTLAMNIM STLQWAVNSS 1150
    IDVDSLMRSV SRVFKFIDMP TEGKPTKSTK PYKNGQLSKV MIIENSHVKK 1200
    DDIWPSGGQM TVKDLTAKYT EGGNAILENI SFSISPGQRV GLLGRTGSGK 1250
    STLLSAFLRL LNTEGEIQID GVSWDSITLQ QWRKAFGVIP QKVFIFSGTF 1300
    RKNLDPYEQW SDQEIWKVAD EVGLRSVIEQ FPGKLDFVLV DGGCVLSHGH 1350
    KQLMCLARSV LSKAKILLLD EPSAHLDPVT YQIIRRTLKQ AFADCTVILC 1400
    EHRIEAMLEC QQFLVIEENK VRQYDSIQKL LNERSLFRQA ISPSDRVKLF 1450
    PHRNSSKCKS KPQIAALKEE TEEEVQDTRL 1480
    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)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti620 – 6201H → N in AAA35680. (PubMed:2475911)Curated
    Sequence conflicti833 – 8331F → L in AAA35680. (PubMed:2475911)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti13 – 131S → F in CF. 1 Publication
    VAR_000101
    Natural varianti31 – 311R → C.1 Publication
    Corresponds to variant rs1800073 [ dbSNP | Ensembl ].
    VAR_000102
    Natural varianti31 – 311R → L in CF. 1 Publication
    VAR_000103
    Natural varianti42 – 421S → F in CF. 1 Publication
    VAR_000104
    Natural varianti44 – 441D → G in CF.
    VAR_000105
    Natural varianti44 – 441D → V.
    Corresponds to variant rs1800074 [ dbSNP | Ensembl ].
    VAR_000106
    Natural varianti50 – 501S → Y in CBAVD. 1 Publication
    VAR_000107
    Natural varianti57 – 571W → G in CF. 1 Publication
    VAR_000108
    Natural varianti67 – 671P → L in CF.
    VAR_000109
    Natural varianti74 – 741R → W in CF.
    Corresponds to variant rs115545701 [ dbSNP | Ensembl ].
    VAR_000110
    Natural varianti75 – 751R → Q.
    Corresponds to variant rs1800076 [ dbSNP | Ensembl ].
    VAR_000111
    Natural varianti85 – 851G → E in CF. 1 Publication
    VAR_000112
    Natural varianti87 – 871F → L in CF. 1 Publication
    VAR_000113
    Natural varianti91 – 911G → R in CF.
    VAR_000114
    Natural varianti92 – 921E → K in CF. 2 Publications
    VAR_000115
    Natural varianti98 – 981Q → R in CF. 1 Publication
    VAR_000116
    Natural varianti105 – 1051I → S in CF.
    VAR_000117
    Natural varianti109 – 1091Y → C in CF. 1 Publication
    VAR_000118
    Natural varianti110 – 1101D → H in CF.
    VAR_000119
    Natural varianti111 – 1111P → L in CBAVD. 1 Publication
    VAR_000120
    Natural varianti117 – 1171R → C in CF. 1 Publication
    VAR_000121
    Natural varianti117 – 1171R → H in CF and CBAVD. 1 Publication
    VAR_000122
    Natural varianti117 – 1171R → L in CF. 1 Publication
    VAR_000123
    Natural varianti117 – 1171R → P in CF. 1 Publication
    VAR_000124
    Natural varianti120 – 1201A → T in CF. 1 Publication
    VAR_000125
    Natural varianti138 – 1381L → P.
    Corresponds to variant rs1800078 [ dbSNP | Ensembl ].
    VAR_009895
    Natural varianti139 – 1391H → R in CF. 1 Publication
    VAR_000126
    Natural varianti141 – 1411A → D in CF. 1 Publication
    VAR_000127
    Natural varianti148 – 1481I → T in CF.
    Corresponds to variant rs35516286 [ dbSNP | Ensembl ].
    VAR_000128
    Natural varianti149 – 1491G → R in CBAVD. 1 Publication
    VAR_000129
    Natural varianti170 – 1701R → H.
    Corresponds to variant rs1800079 [ dbSNP | Ensembl ].
    VAR_009896
    Natural varianti178 – 1781G → R in CF.
    VAR_000130
    Natural varianti182 – 1821S → G.
    Corresponds to variant rs1800080 [ dbSNP | Ensembl ].
    VAR_009897
    Natural varianti192 – 1921Missing in CF. 1 Publication
    VAR_000131
    Natural varianti193 – 1931E → K in CBAVD and CF. 2 Publications
    VAR_000132
    Natural varianti199 – 1991H → Q in CF.
    VAR_000133
    Natural varianti199 – 1991H → Y in CF. 1 Publication
    VAR_000134
    Natural varianti205 – 2051P → S in CF. 1 Publication
    VAR_000135
    Natural varianti206 – 2061L → W in CF. 1 Publication
    VAR_000136
    Natural varianti225 – 2251C → R in CF.
    VAR_000137
    Natural varianti244 – 2441M → K in CBAVD. 1 Publication
    VAR_000138
    Natural varianti258 – 2581R → G in CBAVD. 1 Publication
    Corresponds to variant rs191456345 [ dbSNP | Ensembl ].
    VAR_000139
    Natural varianti287 – 2871N → Y in CF. 1 Publication
    VAR_000140
    Natural varianti297 – 2971R → Q in CF.
    VAR_000141
    Natural varianti301 – 3011Y → C in CF.
    Corresponds to variant rs150691494 [ dbSNP | Ensembl ].
    VAR_000142
    Natural varianti307 – 3071S → N in CF.
    VAR_000143
    Natural varianti311 – 3111F → L in CF.
    VAR_000144
    Natural varianti311 – 3111Missing in CF. 1 Publication
    VAR_000145
    Natural varianti314 – 3141G → E in CF.
    VAR_000146
    Natural varianti314 – 3141G → R in CF. 1 Publication
    VAR_000147
    Natural varianti322 – 3221V → M.
    Corresponds to variant rs1800085 [ dbSNP | Ensembl ].
    VAR_009898
    Natural varianti334 – 3341R → W in CF; mild.
    Corresponds to variant rs121909011 [ dbSNP | Ensembl ].
    VAR_000148
    Natural varianti336 – 3361I → K in CF.
    VAR_000150
    Natural varianti338 – 3381T → I in CF; mild; isolated hypotonic dehydration. 2 Publications
    VAR_000151
    Natural varianti346 – 3461L → P in CF; dominant mutation but mild phenotype. 1 Publication
    VAR_000152
    Natural varianti347 – 3471R → H in CF.
    VAR_000153
    Natural varianti347 – 3471R → L in CF.
    VAR_000154
    Natural varianti347 – 3471R → P in CF; MILD.
    VAR_000155
    Natural varianti351 – 3511T → S.
    Corresponds to variant rs1800086 [ dbSNP | Ensembl ].
    VAR_009899
    Natural varianti352 – 3521R → Q in CF.
    VAR_000156
    Natural varianti353 – 3531Q → H.
    Corresponds to variant rs1800087 [ dbSNP | Ensembl ].
    VAR_009900
    Natural varianti359 – 3602QT → KK in CF.
    VAR_000158
    Natural varianti359 – 3591Q → K in CF.
    VAR_000157
    Natural varianti370 – 3701K → KNK in CF. 1 Publication
    VAR_000159
    Natural varianti455 – 4551A → E in CF. 1 Publication
    VAR_000160
    Natural varianti456 – 4561V → F in CF.
    VAR_000161
    Natural varianti458 – 4581G → V in CF.
    VAR_000162
    Natural varianti467 – 4671L → F.
    Corresponds to variant rs1800089 [ dbSNP | Ensembl ].
    VAR_000163
    Natural varianti470 – 4701V → M.5 Publications
    Corresponds to variant rs213950 [ dbSNP | Ensembl ].
    VAR_000164
    Natural varianti480 – 4801G → C in CF.
    VAR_000165
    Natural varianti492 – 4921S → F in CF.
    VAR_000166
    Natural varianti504 – 5041E → Q in CF.
    VAR_000167
    Natural varianti506 – 5061I → M.
    Corresponds to variant rs1800092 [ dbSNP | Ensembl ].
    VAR_009901
    Natural varianti506 – 5061I → V.
    VAR_000168
    Natural varianti507 – 5071I → V.
    Corresponds to variant rs1800091 [ dbSNP | Ensembl ].
    VAR_000169
    Natural varianti507 – 5071Missing in CF.
    VAR_000170
    Natural varianti508 – 5081F → C.
    Corresponds to variant rs1800093 [ dbSNP | Ensembl ].
    VAR_000172
    Natural varianti508 – 5081Missing in CF and CBAVD; most common mutation; 72% of the population; CFTR fails to be properly delivered to plasma membrane.
    VAR_000171
    Natural varianti513 – 5131D → G in CBAVD. 1 Publication
    VAR_000173
    Natural varianti520 – 5201V → F in CF. 1 Publication
    Corresponds to variant rs77646904 [ dbSNP | Ensembl ].
    VAR_000174
    Natural varianti532 – 5321K → E.
    Corresponds to variant rs35032490 [ dbSNP | Ensembl ].
    VAR_048150
    Natural varianti544 – 5441G → V in CBAVD. 1 Publication
    VAR_000175
    Natural varianti549 – 5491S → I in CF.
    VAR_000177
    Natural varianti549 – 5491S → N in CF.
    VAR_000176
    Natural varianti549 – 5491S → R in CF.
    VAR_000178
    Natural varianti551 – 5511G → D in CF. 1 Publication
    VAR_000179
    Natural varianti551 – 5511G → S in CF.
    VAR_000180
    Natural varianti553 – 5531R → Q in CF.
    VAR_000181
    Natural varianti558 – 5581L → S in CF.
    VAR_000182
    Natural varianti559 – 5591A → T in CF.
    VAR_000183
    Natural varianti560 – 5601R → K in CF.
    VAR_000184
    Natural varianti560 – 5601R → S in CF. 1 Publication
    VAR_000185
    Natural varianti560 – 5601R → T in CF.
    VAR_000186
    Natural varianti562 – 5621V → I.
    Corresponds to variant rs1800097 [ dbSNP | Ensembl ].
    VAR_000187
    Natural varianti562 – 5621V → L in CF. 1 Publication
    Corresponds to variant rs1800097 [ dbSNP | Ensembl ].
    VAR_000188
    Natural varianti563 – 5631Y → N in CF.
    VAR_000189
    Natural varianti569 – 5691Y → C in CF. 1 Publication
    VAR_000190
    Natural varianti569 – 5691Y → D in CF. 1 Publication
    VAR_000191
    Natural varianti569 – 5691Y → H in CF.
    VAR_000192
    Natural varianti571 – 5711L → S in CF.
    VAR_000193
    Natural varianti572 – 5721D → N in CF. 1 Publication
    VAR_000194
    Natural varianti574 – 5741P → H in CF.
    VAR_000195
    Natural varianti576 – 5761G → A.
    Corresponds to variant rs1800098 [ dbSNP | Ensembl ].
    VAR_000196
    Natural varianti579 – 5791D → G in CF. 2 Publications
    VAR_000197
    Natural varianti601 – 6011I → F in CF.
    VAR_000198
    Natural varianti605 – 6051S → F.
    Corresponds to variant rs766874 [ dbSNP | Ensembl ].
    VAR_048151
    Natural varianti610 – 6101L → S in CF.
    VAR_000199
    Natural varianti613 – 6131A → T in CF.
    Corresponds to variant rs201978662 [ dbSNP | Ensembl ].
    VAR_000200
    Natural varianti614 – 6141D → G in CF.
    Corresponds to variant rs201124247 [ dbSNP | Ensembl ].
    VAR_000201
    Natural varianti618 – 6181I → T in CF.
    VAR_000202
    Natural varianti619 – 6191L → S in CF. 1 Publication
    VAR_000203
    Natural varianti620 – 6201H → P in CF.
    VAR_000204
    Natural varianti620 – 6201H → Q in CF.
    VAR_000205
    Natural varianti622 – 6221G → D in oligospermia.
    VAR_000206
    Natural varianti628 – 6281G → R in CF.
    VAR_000207
    Natural varianti633 – 6331L → P in CF.
    VAR_000208
    Natural varianti648 – 6481D → V in CF.
    VAR_000209
    Natural varianti651 – 6511D → N in CF.
    VAR_000210