[Term]
id: PR:000060618
name: breast cancer type 1 susceptibility protein sequence variant E1250* (human)
def: "A breast cancer type 1 susceptibility protein (human) that has has been truncated after the position equivalent to Thr-1249 of the amino acid sequence represented by UniProtKB:P38398-1. Example: UniProtKB:P38398-1, 1-1249." [PRO:DNx, Reactome:R-HSA-9702425]
comment: Category=organism-sequence.
synonym: "hBRCA1/var:E1250*" EXACT PRO-short-label [PRO:DNx]
synonym: "BRCA1 E1250*" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9702425]
synonym: "UniProtKB:P38398, 1-1249" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P38398-1, 1-1249" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9702425 "PR:000060618 located_in GO:0005654"
is_a: PR:P38398 ! breast cancer type 1 susceptibility protein (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens