[Term]
id: PR:000060959
name: exostosin-1 sequence variant R340C (human)
def: "An exostosin-1 (human) that has a Cys residue at the position equivalent to Arg-340 of the amino acid sequence represented by UniProtKB:Q16394. UniProtKB:Q16394, Arg-340, CHEBI:29950." [PRO:DNx, Reactome:R-HSA-3730974]
comment: Category=organism-sequence.
synonym: "hEXT1/var:R340C" EXACT PRO-short-label [PRO:DNx]
synonym: "EXT1 R340C" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-3730974]
synonym: "UniProtKB:Q16394, Arg-340, CHEBI:29950" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-3730974 "PR:000060959 located_in GO:0000139"
is_a: PR:Q16394 ! exostosin-1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens