[Term]
id: PR:000062389
name: exostosin-1 sequence variant G339D (human)
def: "An exostosin-1 (human) that has an Asp residue at the position equivalent to Gly-339 of the amino acid sequence represented by UniProtKB:Q16394. UniProtKB:Q16394, Gly-339, CHEBI:29958." [PRO:DNx, Reactome:R-HSA-3730910]
comment: Category=organism-sequence.
synonym: "hEXT1/var:G339D" EXACT PRO-short-label [PRO:DNx]
synonym: "EXT1 G339D" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-3730910]
synonym: "UniProtKB:Q16394, Gly-339, CHEBI:29958" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-3730910 "PR:000062389 located_in GO:0000139"
is_a: PR:Q16394 ! exostosin-1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens