[Term]
id: PR:000062763
name: breast cancer type 1 susceptibility protein sequence variant C27A (human)
def: "A breast cancer type 1 susceptibility protein (human) that has an Ala residue at the position equivalent to Cys-27 of the amino acid sequence represented by UniProtKB:P38398-1. Example: UniProtKB:P38398-1, Cys-27, CHEBI:46217." [PRO:DNx, Reactome:R-HSA-9700916]
comment: Category=organism-sequence.
synonym: "hBRCA1/var:C27A" EXACT PRO-short-label [PRO:DNx]
synonym: "BRCA1 C27A" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9700916]
synonym: "UniProtKB:P38398, Cys-27, CHEBI:46217" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P38398-1, Cys-27, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9700916 "PR:000062763 located_in GO:0005654"
is_a: PR:P38398 ! breast cancer type 1 susceptibility protein (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens