[Term]
id: PR:000085791
name: dihydrolipoyl dehydrogenase, mitochondrial sequence variant D479V, transit peptide removed form (human)
def: "A dihydrolipoyl dehydrogenase, mitochondrial (human) that has a Val residue at the position equivalent to Asp-479 of the amino acid sequence represented by UniProtKB:P09622-1 and that has had the transit peptide removed. Example: UniProtKB:P09622-1, 36-509, Asp-479, CHEBI:30015." [PRO:DNx, Reactome:R-HSA-9907708]
comment: Category=organism-modification.
synonym: "hDLD/var:D479V/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "D479V DLD" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9907708]
synonym: "UniProtKB:P09622, 36-509, Asp-479, CHEBI:30015" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P09622-1, 36-509, Asp-479, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9907708 "PR:000085791 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