[Term]
id: PR:000061645
name: breast cancer type 1 susceptibility protein sequence variant L1407P (human)
def: "A breast cancer type 1 susceptibility protein (human) that has a Pro residue at the position equivalent to Leu-1407 of the amino acid sequence represented by UniProtKB:P38398-1. Example: UniProtKB:P38398-1, Leu-1407, CHEBI:50342." [PRO:DNx, Reactome:R-HSA-9702135]
comment: Category=organism-sequence.
synonym: "hBRCA1/var:L1407P" EXACT PRO-short-label [PRO:DNx]
synonym: "BRCA1 L1407P" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9702135]
synonym: "UniProtKB:P38398, Leu-1407, CHEBI:50342" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P38398-1, Leu-1407, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9702135 "PR:000061645 located_in GO:0005654"
is_a: PR:P38398 ! breast cancer type 1 susceptibility protein (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens