[Term]
id: PR:000063071
name: breast cancer type 1 susceptibility protein sequence variant C44F (human)
def: "A breast cancer type 1 susceptibility protein (human) that has a Phe residue at the position equivalent to Cys-44 of the amino acid sequence represented by UniProtKB:P38398-1. Example: UniProtKB:P38398-1, Cys-44, CHEBI:29997." [PRO:DNx, Reactome:R-HSA-9700944]
comment: Category=organism-sequence.
synonym: "hBRCA1/var:C44F" EXACT PRO-short-label [PRO:DNx]
synonym: "BRCA1 C44F" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9700944]
synonym: "UniProtKB:P38398, Cys-44, CHEBI:29997" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P38398-1, Cys-44, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9700944 "PR:000063071 located_in GO:0005654"
is_a: PR:P38398 ! breast cancer type 1 susceptibility protein (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens