[Term]
id: PR:000062008
name: breast cancer type 1 susceptibility protein sequence variant C47G (human)
def: "A breast cancer type 1 susceptibility protein (human) that has a Gly residue at the position equivalent to Cys-47 of the amino acid sequence represented by UniProtKB:P38398-1. Example: UniProtKB:P38398-1, Cys-47, CHEBI:29947." [PRO:DNx, Reactome:R-HSA-9700941]
comment: Category=organism-sequence.
synonym: "hBRCA1/var:C47G" EXACT PRO-short-label [PRO:DNx]
synonym: "BRCA1 C47G" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9700941]
synonym: "UniProtKB:P38398, Cys-47, CHEBI:29947" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P38398-1, Cys-47, CHEBI:29947" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9700941 "PR:000062008 located_in GO:0005654"
is_a: PR:P38398 ! breast cancer type 1 susceptibility protein (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens