[Term]
id: PR:000063429
name: cystic fibrosis transmembrane conductance regulator sequence variant N1303K (human)
def: "A cystic fibrosis transmembrane conductance regulator (human) that has a Lys residue at the position equivalent to Asn-1303 of the amino acid sequence represented by UniProtKB:P13569-1. Example: UniProtKB:P13569-1, Asn-1303, CHEBI:29967." [PRO:DNx, Reactome:R-HSA-5678983]
comment: Category=organism-sequence.
synonym: "hCFTR/var:N1303K" EXACT PRO-short-label [PRO:DNx]
synonym: "CFTR N1303K" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5678983]
synonym: "UniProtKB:P13569, Asn-1303, CHEBI:29967" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P13569-1, Asn-1303, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5678983 "PR:000063429 located_in GO:0005886"
is_a: PR:P13569 ! cystic fibrosis transmembrane conductance regulator (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens