Variant position: 50 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 QRLELSDIYQIPSVDSADNL SEKLEREWDRELAS-KKNPKLI
Gorilla QRLELSDIYQIPSVDSADNL SEKLEREWDRELAS-KKNPKL
Rhesus macaque QRLELSDIYQIPSADSADNL SEKLEREWDRELAS-KKNPKL
Chimpanzee QRLELSDIYQIPSVDSADNL SEKLEREWDRELAS-KKNPKL
Mouse HHLELSDIYQAPSADSADHL SEKLEREWDREQAS-KKNPQL
Rat HHLELSDIYQAPSSDSADHL SEKLEREWDREQAS-KKKPQL
Pig QRLELSDIYHISSSDSADNL SEKLEREWDRELAS-KKNPKL
Bovine QRLELSDIYHISSSDSADNL SEKLEREWDRELAS-KKNPKL
Rabbit QRLELSDIYQIPSADSADNL SEKLEREWDRELAS-KKKPKL
Sheep QRLELSDIYHISSSDSADNL SEKLEREWDRELAS-KKNPKL
Horse QRLELSDIYQIPSADSADNL SEKLEREWDRELVS-KKNPKL
Xenopus laevis QRLELSDIYQIHPGDSADNL SERLEREWDREVATSKKNPKL
Zebrafish EKLRPSDVYQAPSQDAADIL AERLEKEWDREVASGKKKPSL
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
1 – 77 Cytoplasmic
46 – 63
Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).
Zielenski J.; Patrizio P.; Markiewicz D.; Asch R.H.; Tsui L.-C.;
Hum. Mutat. 9:183-184(1997)
Cited for: VARIANT CBAVD TYR-50;
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