[Term]
id: PR:000062475
name: mannose-P-dolichol utilization defect 1 protein sequence variant L74S, initiator methionine removed form (human)
def: "A mannose-P-dolichol utilization defect 1 protein (human) that has a Ser residue at the position equivalent to Leu-74 of the amino acid sequence represented by UniProtKB:O75352-1 and that has had the initiator methionine removed. Example: UniProtKB:O75352-1, 2-247, Leu-74, CHEBI:29999." [PRO:DNx, Reactome:R-HSA-4717358]
comment: Category=organism-modification.
synonym: "hMPDU1/var:L74S/InitMet-" EXACT PRO-short-label [PRO:DNx]
synonym: "MPDU1 L74S" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-4717358]
synonym: "UniProtKB:O75352, 2-247, Leu-74, CHEBI:29999" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:O75352-1, 2-247, Leu-74, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-4717358 "PR:000062475 located_in GO:0005789"
is_a: PR:O75352 ! mannose-P-dolichol utilization defect 1 protein (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens