Sequence information
Variant position: 85 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:
KNPKLINALRRCFFWRFMFY
G IFLYLGEVTKAVQPLLLGRI
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 KNPKLINALRRCFFWRFMFYG IFLYLGEVTKAVQPLLLGRI
Gorilla KNPKLINALRRCFFWRFMFYG IFLYLGEVTKAVQPLLLGRI
Rhesus macaque KNPKLINALRRCFFWRFMFYG ILLYLGEVTKAVQPLLLGRI
Chimpanzee KNPKLINALRRCFFWRFMFYG IFLYLGEVTKAVQPLLLGRI
Mouse KNPQLIHALRRCFFWRFLFYG ILLYLGEVTKAVQPVLLGRI
Rat KKPQLIHALRRCFVWRFVFYG VLLYLGEVTKAVQPVLLGRI
Pig KNPKLINALRRCFFWRFMFYG IILYLGEVTKAVQPLLLGRI
Bovine KNPKLINALRRCFFWRFMFYG IILYLGEVTKAVQPLLLGRI
Rabbit KKPKLINALRRCFFWRFMFYG ILLYLGEVTKAVQPLLLGRI
Sheep KNPKLINALRRCFFWRFMFYG IILYLGEVTKAVQPLLLGRI
Horse KNPKLINALRRCFFWRFMFYG IILYLGEVTKAVQPLLLGRI
Xenopus laevis KNPKLINALKRCFFWKFLFYG ILLYLGEVTKAVQPLLLGRI
Zebrafish KKPSLLRAMARCYIKPFLLFG FLLYIGEATKTVQPQLLGRI
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
78 – 98
Helical; Name=1
Domain
81 – 365
ABC transmembrane type-1 1
Helix
70 – 97
Literature citations
Cystic fibrosis mutation frequencies in upstate New York.
Shrimpton A.E.; Borowitz D.; Swender P.;
Hum. Mutat. 10:436-442(1997)
Cited for: VARIANTS CF GLU-85; HIS-117; TYR-287; GLU-455; ASP-551; PRO-1070 AND LYS-1303;
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.