[Term]
id: PR:000060559
name: exostosin-1 sequence variant G339L (human)
def: "An exostosin-1 (human) that has a Leu residue at the position equivalent to Gly-339 of the amino acid sequence represented by UniProtKB:Q16394. UniProtKB:Q16394, Gly-339, CHEBI:30006." [PRO:DNx, Reactome:R-HSA-3730912]
comment: Category=organism-sequence.
synonym: "hEXT1/var:G339L" EXACT PRO-short-label [PRO:DNx]
synonym: "EXT1 R339L" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-3730912]
synonym: "UniProtKB:Q16394, Gly-339, CHEBI:30006" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-3730912 "PR:000060559 located_in GO:0000139"
is_a: PR:Q16394 ! exostosin-1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens