[Term]
id: PR:000060974
name: methylmalonyl-CoA mutase, mitochondrial sequence variant N219Y, transit peptide removed form (human)
def: "A methylmalonyl-CoA mutase, mitochondrial (human) that has a Tyr residue at the position equivalent to Asn-219 of the amino acid sequence represented by UniProtKB:P22033 and that has had the transit peptide removed. UniProtKB:P22033, 33-750, Asn-219, CHEBI:46858." [PRO:DNx, Reactome:R-HSA-3323146]
comment: Category=organism-modification.
synonym: "hMMUT/var:N219Y/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "MUT N219Y" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-3323146]
synonym: "UniProtKB:P22033, 33-750, Asn-219, CHEBI:46858" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-3323146 "PR:000060974 located_in GO:0005759"
is_a: PR:P22033 ! methylmalonyl-CoA mutase, mitochondrial (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens