[Term]
id: PR:000061655
name: BRCA1-associated RING domain protein 1 sequence variant H68Y (human)
def: "A BRCA1-associated RING domain protein 1 (human) that has a Tyr residue at the position equivalent to His-68 of the amino acid sequence represented by UniProtKB:Q99728-1. Example: UniProtKB:Q99728-1, His-68, CHEBI:46858." [PRO:DNx, Reactome:R-HSA-9699151]
comment: Category=organism-sequence.
synonym: "hBARD1/var:H68Y" EXACT PRO-short-label [PRO:DNx]
synonym: "BARD1 H68Y" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9699151]
synonym: "UniProtKB:Q99728, His-68, CHEBI:46858" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q99728-1, His-68, CHEBI:46858" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9699151 "PR:000061655 located_in GO:0005654"
is_a: PR:Q99728 ! BRCA1-associated RING domain protein 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens