[Term]
id: PR:000085794
name: dihydrolipoyl dehydrogenase, mitochondrial sequence variant R495G, transit peptide removed form (human)
def: "A dihydrolipoyl dehydrogenase, mitochondrial (human) that has a Gly residue at the position equivalent to Arg-495 of the amino acid sequence represented by UniProtKB:P09622-1 and that has had the transit peptide removed. Example: UniProtKB:P09622-1, 36-509, Arg-495, CHEBI:29947." [PRO:DNx, Reactome:R-HSA-9907710]
comment: Category=organism-modification.
synonym: "hDLD/var:R495G/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "R495G DLD" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9907710]
synonym: "UniProtKB:P09622, 36-509, Arg-495, CHEBI:29947" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P09622-1, 36-509, Arg-495, CHEBI:29947" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9907710 "PR:000085794 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