Variant position: 42 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 PILRKGYRQRLELSDIYQIP SVDSADNLSEKLEREWDRELA
Gorilla PILRKGYRQRLELSDIYQIP SVDSADNLSEKLEREWDRELA
Rhesus macaque PILRKGYRQRLELSDIYQIP SADSADNLSEKLEREWDRELA
Chimpanzee PILRKGYRQRLELSDIYQIP SVDSADNLSEKLEREWDRELA
Mouse PILRKGYRHHLELSDIYQAP SADSADHLSEKLEREWDREQA
Rat PILRKGYRHHLELSDIYQAP SSDSADHLSEKLEREWDREQA
Pig PILRKGYRQRLELSDIYHIS SSDSADNLSEKLEREWDRELA
Bovine PILKKGYRQRLELSDIYHIS SSDSADNLSEKLEREWDRELA
Rabbit PILRKGYRQRLELSDIYQIP SADSADNLSEKLEREWDRELA
Sheep PILKKGYRQRLELSDIYHIS SSDSADNLSEKLEREWDRELA
Horse PILRKGYRQRLELSDIYQIP SADSADNLSEKLEREWDRELV
Xenopus laevis PILWKGYRQRLELSDIYQIH PGDSADNLSERLEREWDREVA
Zebrafish PIMRKGFKEKLRPSDVYQAP SQDAADILAERLEKEWDREVA
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
Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.
Ferec C.; Novelli G.; Verlingue C.; Quere I.; Dallapiccola B.; Audrezet M.P.; Mercier B.;
Mol. Cell. Probes 9:135-137(1995)
Cited for: VARIANTS CF PHE-42; LEU-117; ARG-139 AND GLU-1006;
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