[Term]
id: PR:000062839
name: 1,4-alpha-glucan-branching enzyme sequence variant R515C (human)
def: "A 1,4-alpha-glucan-branching enzyme (human) that has a Cys residue at the position equivalent to Arg-515 of the amino acid sequence represented by UniProtKB:Q04446. UniProtKB:Q04446, Arg-515, CHEBI:29950." [PRO:DNx, Reactome:R-HSA-3878775]
comment: Category=organism-sequence.
synonym: "hGBE1/var:R515C" EXACT PRO-short-label [PRO:DNx]
synonym: "GBE1 R515C" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-3878775]
synonym: "UniProtKB:Q04446, Arg-515, CHEBI:29950" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-3878775 "PR:000062839 located_in GO:0005829"
is_a: PR:Q04446 ! 1,4-alpha-glucan-branching enzyme (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens