[Term]
id: PR:000085865
name: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial sequence variant Q346R, transit peptide removed form (human)
def: "A 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial (human) that has an Arg residue at the position equivalent to Gln-346 of the amino acid sequence represented by UniProtKB:P21953-1 and that has had the transit peptide removed. Example: UniProtKB:P21953-1, 51-392, Gln-346, CHEBI:29952." [PRO:DNx, Reactome:R-HSA-9865060]
comment: Category=organism-modification.
synonym: "hBCKDHB/var:Q346R/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "Q346R BCKDHB" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9865060]
synonym: "UniProtKB:P21953, 51-392, Gln-346, CHEBI:29952" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P21953-1, 51-392, Gln-346, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9865060 "PR:000085865 located_in GO:0005759"
is_a: PR:P21953 ! 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial (human)
relationship: lacks_part SO:0000725 ! transit_peptide
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens