[Term]
id: PR:000062172
name: BRCA1-associated RING domain protein 1 sequence variant L44R (human)
def: "A BRCA1-associated RING domain protein 1 (human) that has an Arg residue at the position equivalent to Leu-44 of the amino acid sequence represented by UniProtKB:Q99728-1. Example: UniProtKB:Q99728-1, Leu-44, CHEBI:29952." [PRO:DNx, Reactome:R-HSA-9699126]
comment: Category=organism-sequence.
synonym: "hBARD1/var:L44R" EXACT PRO-short-label [PRO:DNx]
synonym: "BARD1 L44R" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9699126]
synonym: "UniProtKB:Q99728, Leu-44, CHEBI:29952" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q99728-1, Leu-44, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9699126 "PR:000062172 located_in GO:0005654"
is_a: PR:Q99728 ! BRCA1-associated RING domain protein 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens