Sequence information
Variant position: 139 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:
IAIYLGIGLCLLFIVRTLLL
H PAIFGLHHIGMQMRIAMFSL
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 IAIYLGIGLCLLFIVRTLLLH PAIFGLHHIGMQMRIAMFSL
Gorilla IAIYLGIGLCLLFIVRTLLLH PAIFGLHHIGMQMRIAMFSL
Rhesus macaque IAIYLGIGLCLLFIVRTLLLH PAIFGLHHIGMQMRIAMFSL
Chimpanzee IAIYLGIGLCLLFIVRTLLLH PAIFGLHHIGMQMRIAMFSL
Mouse IAIYLGIGLCLLFIVRTLLLH PAIFGLHRIGMQMRTAMFSL
Rat IAIYLGIGLCLLFIVRTLLLH PAIFGLHHIGMQMRIAMFSL
Pig IAIYLGVGLCLLFIVRTLLLH PAIFGPHHIGMQMRIAMFSL
Bovine IAIYLGIGLCLLFIVRTLLLH PAIFGLHHIGMQMRIAMFSL
Rabbit IAIYLGIGLCLLFVVRTLLLH PAIFGLHHIGMQMRIAMFSL
Sheep IAIYLGIGLCLLFIVRTLLLH PAIFGLHHIGMQMRIAMFSL
Horse IAIYLGIGLCLLFIVRTLLLH PAIFGLHHIGMQMRIAMFSL
Xenopus laevis IAYYLAIGLCLLFVVRMLLLH PAIFGLHHIGMQMRIAMFSL
Zebrafish NGYFLAFGLGLLFTARFLLLQ PAMFGLHHLGMQIRIALFSI
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
Transmembrane
123 – 146
Helical; Name=2
Domain
81 – 365
ABC transmembrane type-1 1
Helix
120 – 164
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.