[Term]
id: PR:000063523
name: cystic fibrosis transmembrane conductance regulator sequence variant G551D (human)
def: "A cystic fibrosis transmembrane conductance regulator (human) that has an Asp residue at the position equivalent to Gly-551 of the amino acid sequence represented by UniProtKB:P13569-1. Example: UniProtKB:P13569-1, Gly-551, CHEBI:29958." [PRO:DNx, Reactome:R-HSA-5678977]
comment: Category=organism-sequence.
synonym: "hCFTR/var:G551D" EXACT PRO-short-label [PRO:DNx]
synonym: "CFTR G551D" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5678977]
synonym: "UniProtKB:P13569, Gly-551, CHEBI:29958" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P13569-1, Gly-551, CHEBI:29958" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5678977 "PR:000063523 located_in GO:0005886"
is_a: PR:P13569 ! cystic fibrosis transmembrane conductance regulator (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens