Variant position: 800 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1480 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human GQNIHRKTTASTRKVSLAPQ ANLT-ELDIYSRRLSQETGLEI
Gorilla GQNIHRKTTASTRKVSLAPQ ANLT-ELDIYSRRLSQETGLE
Rhesus macaque GQSIHRKTAASTRKVSLAPQ ANLT-ELDIYSRRLSQETGLE
Chimpanzee GQNIHRKTTASTRKVSLAPQ ANLT-ELDIYSRRLSQETGLE
Mouse GSSNLQRTRTSIRKISLVPQ ISLN-EVDVYSRRLSQDSTLN
Rat VSSSLQRTRASIRKISLAPR ISLK-EEDIYSRRLSQDSTLN
Pig GQSIHRKTATSTRKMSLVPQ ANLT-EIDIYSRRLSQDTGLE
Bovine GQSIHRKTATSTRKMSLAPQ ASLA-EIDIYSRRLSQDTGLE
Rabbit GPSIYRRTTTSARKMSLAPQ TNLT-EMDIYSRRLSQESGLE
Sheep GQSIHRKTATSTRKMSLAPQ ASLA-EIDIYSRRLSQDTGLE
Horse GQSIHRKTATSTRKMSLAPQ ANLT-EMDIYSRRLSQDSGLE
Xenopus laevis GSNAFATRNASVRKMSVNSY SNSSFDLDIYNRRLSQDSILE
Zebrafish GRREHLQSSFR-RRLSVVPQ SELASELDIYTRRLS-DSTYD
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 1480 Cystic fibrosis transmembrane conductance regulator
359 – 858 Cytoplasmic
654 – 831 Intrinsically disordered R region
790 – 790 Phosphoserine; by PKC
795 – 795 Phosphoserine; by PKA
813 – 813 Phosphoserine; by PKA
606 – 1480 Missing. In isoform 3.
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
Mercier B.; Verlingue C.; Lissens W.; Silber S.J.; Novelli G.; Bonduelle M.; Audrezet M.-P.; Ferec C.;
Am. J. Hum. Genet. 56:272-277(1995)
Cited for: VARIANTS CBAVD ARG-149; LYS-193; GLY-258 AND GLY-800;
Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
Vankeerberghen A.; Wei L.; Jaspers M.; Cassiman J.-J.; Nilius B.; Cuppens H.;
Hum. Mol. Genet. 7:1761-1769(1998)
Cited for: CHARACTERIZATION OF VARIANTS CF PHE-601; SER-610; THR-613; GLY-614; THR-618; SER-619; GLN-620; PRO-620; ARG-628; PRO-633 AND SER-665; CHARACTERIZATION OF VARIANT OLIGOSPERMIA ASP-622; CHARACTERIZATION OF VARIANTS CBAVD GLY-792 AND GLY-800; CHARACTERIZATION OF VARIANT THORACIC SARCOIDOSIS LYS-828;
Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.
Choi J.Y.; Muallem D.; Kiselyov K.; Lee M.G.; Thomas P.J.; Muallem S.;
Cited for: CHARACTERIZATION OF VARIANTS CF HIS-117; THR-148; ARG-178; LYS-193; ASP-551; SER-551; GLN-620; VAL-648; GLY-800; TYR-949; THR-1067; GLN-1070; GLU-1244; PRO-1255 AND ASP-1349;
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