[Term]
id: PR:000060956
name: breast cancer type 2 susceptibility protein sequence variant I2627F (human)
def: "A breast cancer type 2 susceptibility protein (human) that has a Phe residue at the position equivalent to Ile-2627 of the amino acid sequence represented by UniProtKB:P51587. UniProtKB:P51587, Ile-2627, CHEBI:29997." [PRO:DNx, Reactome:R-HSA-9763218]
comment: Category=organism-sequence.
synonym: "hBRCA2/var:I2627F" EXACT PRO-short-label [PRO:DNx]
synonym: "BRCA2 I2627F" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9763218]
synonym: "UniProtKB:P51587, Ile-2627, CHEBI:29997" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9763218 "PR:000060956 located_in GO:0005829"
is_a: PR:P51587 ! breast cancer type 2 susceptibility protein (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens