[Term]
id: PR:000060336
name: alpha-1,2-mannosyltransferase ALG9 sequence variant L286C (human)
def: "An alpha-1,2-mannosyltransferase ALG9 (human) that has a Cys residue at the position equivalent to Leu-286 of the amino acid sequence represented by UniProtKB:Q9H6U8-1. Example: UniProtKB:Q9H6U8-1, Leu-286, CHEBI:29950." [PRO:DNx, Reactome:R-HSA-4720474]
comment: Category=organism-sequence.
synonym: "hALG9/var:L286C" EXACT PRO-short-label [PRO:DNx]
synonym: "ALG9 Y286C" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-4720474]
synonym: "UniProtKB:Q9H6U8, Leu-286, CHEBI:29950" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q9H6U8-1, Leu-286, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-4720474 "PR:000060336 located_in GO:0005789"
is_a: PR:Q9H6U8 ! alpha-1,2-mannosyltransferase ALG9 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens