[Term]
id: PR:000062671
name: chitobiosyldiphosphodolichol beta-mannosyltransferase sequence variant S258L (human)
def: "A chitobiosyldiphosphodolichol beta-mannosyltransferase (human) that has a Leu residue at the position equivalent to Ser-258 of the amino acid sequence represented by UniProtKB:Q9BT22-1. Example: UniProtKB:Q9BT22-1, Ser-258, CHEBI:30006." [PRO:DNx, Reactome:R-HSA-4549385]
comment: Category=organism-sequence.
synonym: "hALG1/var:S258L" EXACT PRO-short-label [PRO:DNx]
synonym: "ALG1 S258L" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-4549385]
synonym: "UniProtKB:Q9BT22, Ser-258, CHEBI:30006" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q9BT22-1, Ser-258, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-4549385 "PR:000062671 located_in GO:0005789"
is_a: PR:Q9BT22 ! chitobiosyldiphosphodolichol beta-mannosyltransferase (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens