[Term]
id: PR:000064134
name: breast cancer type 1 susceptibility protein sequence variant H41Q (human)
def: "A breast cancer type 1 susceptibility protein (human) that has a Gln residue at the position equivalent to His-41 of the amino acid sequence represented by UniProtKB:P38398-1. Example: UniProtKB:P38398-1, His-41, CHEBI:30011." [PRO:DNx, Reactome:R-HSA-9700923]
comment: Category=organism-sequence.
synonym: "hBRCA1/var:H41Q" EXACT PRO-short-label [PRO:DNx]
synonym: "BRCA1 H41Q" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9700923]
synonym: "UniProtKB:P38398, His-41, CHEBI:30011" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P38398-1, His-41, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9700923 "PR:000064134 located_in GO:0005654"
is_a: PR:P38398 ! breast cancer type 1 susceptibility protein (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens