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P13569

- CFTR_HUMAN

UniProt

P13569 - CFTR_HUMAN

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Protein
Cystic fibrosis transmembrane conductance regulator
Gene
CFTR, ABCC7
Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi458 – 4658ATP 1 Reviewed prediction
Nucleotide bindingi1244 – 12518ATP 2 Reviewed prediction

GO - Molecular functioni

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

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
Complete GO annotation...

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).3 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 8080Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei81 – 10323Helical; Name=1; Reviewed prediction
Add
BLAST
Topological domaini104 – 11714Extracellular Reviewed prediction
Add
BLAST
Transmembranei118 – 13821Helical; Name=2; Reviewed prediction
Add
BLAST
Topological domaini139 – 19456Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei195 – 21521Helical; Name=3; Reviewed prediction
Add
BLAST
Topological domaini216 – 2205Extracellular Reviewed prediction
Transmembranei221 – 24121Helical; Name=4; Reviewed prediction
Add
BLAST
Topological domaini242 – 30766Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei308 – 32821Helical; Name=5; Reviewed prediction
Add
BLAST
Topological domaini329 – 3302Extracellular Reviewed prediction
Transmembranei331 – 35020Helical; Name=6; Reviewed prediction
Add
BLAST
Topological domaini351 – 859509Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei860 – 88021Helical; Name=7; Reviewed prediction
Add
BLAST
Topological domaini881 – 91131Extracellular Reviewed prediction
Add
BLAST
Transmembranei912 – 93221Helical; Name=8; Reviewed prediction
Add
BLAST
Topological domaini933 – 99058Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei991 – 101121Helical; Name=9; Reviewed prediction
Add
BLAST
Topological domaini1012 – 10132Extracellular Reviewed prediction
Transmembranei1014 – 103421Helical; Name=10; Reviewed prediction
Add
BLAST
Topological domaini1035 – 110268Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei1103 – 112321Helical; Name=11; Reviewed prediction
Add
BLAST
Topological domaini1124 – 11285Extracellular Reviewed prediction
Transmembranei1129 – 114921Helical; Name=12; Reviewed prediction
Add
BLAST
Topological domaini1150 – 1480331Cytoplasmic Reviewed prediction
Add
BLAST

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.46 Publications
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.
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
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 regulator
PRO_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.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.
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 SLC26A8.6 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

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.

Miscellaneous databases

EvolutionaryTraceiP13569.

Family & Domainsi

Domains and Repeats

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

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

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.
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
Natural varianti654 – 6541S → G.
Corresponds to variant rs1800099 [ dbSNP | Ensembl ].
VAR_009902
Natural varianti665 – 6651T → S in CF. 1 Publication
VAR_000211
Natural varianti668 – 6681R → C.
Corresponds to variant rs1800100 [ dbSNP | Ensembl ].
VAR_000212
Natural varianti693 – 6931F → L.
Corresponds to variant rs1800101 [ dbSNP | Ensembl ].
VAR_000213
Natural varianti754 – 7541V → M in CF.
Corresponds to variant rs150157202 [ dbSNP | Ensembl ].
VAR_000214
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 varianti822 – 8221E → K in CF.
VAR_000219
Natural varianti826 – 8261E → K in thoracic sarcoidosis.
VAR_000220
Natural varianti866 – 8661C → Y in CF.
VAR_000221
Natural varianti903 – 9031Y → H.
Corresponds to variant rs1800106 [ dbSNP | Ensembl ].
VAR_009903
Natural varianti909 – 9091S → I.
Corresponds to variant rs1800107 [ dbSNP | Ensembl ].
VAR_009904
Natural varianti912 – 9121S → L.1 Publication
Corresponds to variant rs121909034 [ dbSNP | Ensembl ].
VAR_000222
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 varianti967 – 9671L → S.
Corresponds to variant rs1800110 [ dbSNP | Ensembl ].
VAR_009905
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