Sequence information
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:
PILRKGYRQRLELSDIYQIP
S VDSADNLSEKLEREWDRELA
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 PILRKGYRQRLELSDIYQIPS VDSADNLSEKLEREWDRELA
Gorilla PILRKGYRQRLELSDIYQIPS VDSADNLSEKLEREWDRELA
Rhesus macaque PILRKGYRQRLELSDIYQIPS ADSADNLSEKLEREWDRELA
Chimpanzee PILRKGYRQRLELSDIYQIPS VDSADNLSEKLEREWDRELA
Mouse PILRKGYRHHLELSDIYQAPS ADSADHLSEKLEREWDREQA
Rat PILRKGYRHHLELSDIYQAPS SDSADHLSEKLEREWDREQA
Pig PILRKGYRQRLELSDIYHISS SDSADNLSEKLEREWDRELA
Bovine PILKKGYRQRLELSDIYHISS SDSADNLSEKLEREWDRELA
Rabbit PILRKGYRQRLELSDIYQIPS ADSADNLSEKLEREWDRELA
Sheep PILKKGYRQRLELSDIYHISS SDSADNLSEKLEREWDRELA
Horse PILRKGYRQRLELSDIYQIPS ADSADNLSEKLEREWDRELV
Xenopus laevis PILWKGYRQRLELSDIYQIHP GDSADNLSERLEREWDREVA
Zebrafish PIMRKGFKEKLRPSDVYQAPS QDAADILAERLEKEWDREVA
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
42 – 44
Literature citations
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;
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.