[Term]
id: PR:000060595
name: 1,4-alpha-glucan-branching enzyme sequence variant F257L (human)
def: "A 1,4-alpha-glucan-branching enzyme (human) that has a Leu residue at the position equivalent to Phe-257 of the amino acid sequence represented by UniProtKB:Q04446. UniProtKB:Q04446, Phe-257, CHEBI:30006." [PRO:DNx, Reactome:R-HSA-3878767]
comment: Category=organism-sequence.
synonym: "hGBE1/var:F257L" EXACT PRO-short-label [PRO:DNx]
synonym: "GBE1 F257L" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-3878767]
synonym: "UniProtKB:Q04446, Phe-257, CHEBI:30006" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-3878767 "PR:000060595 located_in GO:0005829"
is_a: PR:Q04446 ! 1,4-alpha-glucan-branching enzyme (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens