[Term]
id: PR:000085955
name: dihydrolipoyl dehydrogenase, mitochondrial sequence variant M361V, transit peptide removed form (human)
def: "A dihydrolipoyl dehydrogenase, mitochondrial (human) that has a Val residue at the position equivalent to Met-361 of the amino acid sequence represented by UniProtKB:P09622-1 and that has had the transit peptide removed. Example: UniProtKB:P09622-1, 36-509, Met-361, CHEBI:30015." [PRO:DNx, Reactome:R-HSA-9907714]
comment: Category=organism-modification.
synonym: "hDLD/var:M361V/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "M361V DLD" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9907714]
synonym: "UniProtKB:P09622, 36-509, Met-361, CHEBI:30015" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P09622-1, 36-509, Met-361, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9907714 "PR:000085955 located_in GO:0005759"
is_a: PR:P09622 ! dihydrolipoyl dehydrogenase, mitochondrial (human)
relationship: lacks_part SO:0000725 ! transit_peptide
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens