[Term]
id: PR:000061642
name: methylmalonyl-CoA mutase, mitochondrial sequence variant V378E, transit peptide removed form (human)
def: "A methylmalonyl-CoA mutase, mitochondrial (human) that has a Glu residue at the position equivalent to Val-378 of the amino acid sequence represented by UniProtKB:P22033 and that has had the transit peptide removed. UniProtKB:P22033, 33-750, Val-378, CHEBI:29972." [PRO:DNx, Reactome:R-HSA-3323133]
comment: Category=organism-modification.
synonym: "hMMUT/var:V378E/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "MUT A378E" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-3323133]
synonym: "UniProtKB:P22033, 33-750, Val-378, CHEBI:29972" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-3323133 "PR:000061642 located_in GO:0005759"
is_a: PR:P22033 ! methylmalonyl-CoA mutase, mitochondrial (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens