Sequence information
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:
MQRSPLEKASVV
S KLFFSWTRPILRKGYRQRLE
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 MQRSPLEKASVVS KLFFSWTRPILRKGYRQRLE
Gorilla MQRSPLEKASVVS KLFFSWTRPILRKGYRQRLE
Rhesus macaque MQRSPLEKASVVS KLFFSWTRPILRKGYRQRLE
Chimpanzee MQRSPLEKASVVS KLFFSWTRPILRKGYRQRLE
Mouse MQKSPLEKASFIS KLFFSWTTPILRKGYRHHLE
Rat MQKSPLEKASFIS KLFFSWTTPILRKGYRHHLE
Pig MQRSPLEKASIFS KLFFSWTRPILRKGYRQRLE
Bovine MQRSPLEKASVVS KLFFSWTRPILKKGYRQRLE
Rabbit MQKSPLEKAGVLS KLFFSWTRPILRKGYRQRLE
Sheep MQRSPLEKASVVS KLFFSWTRPILKKGYRQRLE
Horse MQRSPLEKASVIS KLFFSWTRPILRKGYRQRLE
Xenopus laevis MQKTPLEKASIFS QIFFSWTKPILWKGYRQRLE
Zebrafish MQRSPVEDANCLS RYFFWWTNPIMRKGFKEKLR
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
Chain
1 – 1480
Cystic fibrosis transmembrane conductance regulator
Topological domain
1 – 77
Cytoplasmic
Helix
11 – 16
Literature citations
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;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.