[Term]
id: PR:000064463
name: breast cancer type 1 susceptibility protein sequence variant E648* (human)
def: "A breast cancer type 1 susceptibility protein (human) that has has been truncated after the position equivalent to Ser-647 of the amino acid sequence represented by UniProtKB:P38398-1. Example: UniProtKB:P38398-1, 1-647." [PRO:DNx, Reactome:R-HSA-9702443]
comment: Category=organism-sequence.
synonym: "hBRCA1/var:E648*" EXACT PRO-short-label [PRO:DNx]
synonym: "BRCA1 E648*" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9702443]
synonym: "UniProtKB:P38398, 1-647" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P38398-1, 1-647" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9702443 "PR:000064463 located_in GO:0005654"
is_a: PR:P38398 ! breast cancer type 1 susceptibility protein (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens