[Term]
id: PR:000061646
name: methylmalonyl-CoA mutase, mitochondrial sequence variant G623R, transit peptide removed form (human)
def: "A methylmalonyl-CoA mutase, mitochondrial (human) that has an Arg residue at the position equivalent to Gly-623 of the amino acid sequence represented by UniProtKB:P22033 and that has had the transit peptide removed. UniProtKB:P22033, 33-750, Gly-623, CHEBI:29952." [PRO:DNx, Reactome:R-HSA-3323123]
comment: Category=organism-modification.
synonym: "hMMUT/var:G623R/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "MUT G623R" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-3323123]
synonym: "UniProtKB:P22033, 33-750, Gly-623, CHEBI:29952" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-3323123 "PR:000061646 located_in GO:0005759"
is_a: PR:P22033 ! methylmalonyl-CoA mutase, mitochondrial (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens