Variant position: 13 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 MQRSPLEKASVV SKLFFSWTRPILRKGYRQRLE
Gorilla MQRSPLEKASVV SKLFFSWTRPILRKGYRQRLE
Rhesus macaque MQRSPLEKASVV SKLFFSWTRPILRKGYRQRLE
Chimpanzee MQRSPLEKASVV SKLFFSWTRPILRKGYRQRLE
Mouse MQKSPLEKASFI SKLFFSWTTPILRKGYRHHLE
Rat MQKSPLEKASFI SKLFFSWTTPILRKGYRHHLE
Pig MQRSPLEKASIF SKLFFSWTRPILRKGYRQRLE
Bovine MQRSPLEKASVV SKLFFSWTRPILKKGYRQRLE
Rabbit MQKSPLEKAGVL SKLFFSWTRPILRKGYRQRLE
Sheep MQRSPLEKASVV SKLFFSWTRPILKKGYRQRLE
Horse MQRSPLEKASVI SKLFFSWTRPILRKGYRQRLE
Xenopus laevis MQKTPLEKASIF SQIFFSWTKPILWKGYRQRLE
Zebrafish MQRSPVEDANCL SRYFFWWTNPIMRKGFKEKLR
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
11 – 19
Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.
Leoni G.B.; Pitzalis S.; Tonelli R.; Cao A.;
Hum. Mutat. 11:337-337(1998)
Cited for: VARIANTS CF PHE-13 AND ILE-338;
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