Variant position: 455 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 LLGTPVLKDINFKIERGQLL AVAGSTGAGKTSLLMVIMGEL
Gorilla LLGTPVLKDINFKIERGQLL AVAGSTGAGKTSLLMMIMGEL
Rhesus macaque LLGTPVLKDINFKIERGQLL AVAGSTGAGKTSLLMMIMGEL
Chimpanzee LLGTPVLKDINFKIERGQLL AVAGSTGAGKTSLLMMIMGEL
Mouse LVGNPVLKNINLNIEKGEML AITGSTGSGKTSLLMLILGEL
Rat LVGNPVLKNINLNIKKGEML AITGSTGAGKTSLLMLILGEL
Pig LLGTPVLKDISFKIERGQLL AVAGSTGAGKTSLLMMIMGEL
Bovine LLGTPVLKDISFKIERGQLL AVAGSTGAGKTSLLMMIMGEL
Rabbit LLGAPVLKDISFKIERGQLL AVAGSTGAGKTSLLMMIMGEL
Sheep LLGTPVLKDISFKIERGQLL AVAGSTGAGKTSLLMMIMGEL
Horse LLGTPVLKDISFKIERGQLL AVAGSTGAGKTSLLMMIMGEL
Xenopus laevis LHVAPVLRNINFKIEKGQLL AIAGSTGAGKTSLLMMIMGEL
Zebrafish LYVAPVLKDISLKLKKGEML AVTGSMGSGKSSLLMTILGEL
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
359 – 858 Cytoplasmic
423 – 646 ABC transporter 1
404 – 464 Missing. In isoform 2.
464 – 464 K -> M. Impaired maturation of glycan chains indicating impaired trafficking from the endoplasmic reticulum to the cell membrane.
453 – 457
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;
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.