[Term]
id: PR:000085939
name: methylglutaconyl-CoA hydratase, mitochondrial sequence variant A240V, transit peptide removed form (human)
def: "A methylglutaconyl-CoA hydratase, mitochondrial (human) that has a Val residue at the position equivalent to Ala-240 of the amino acid sequence represented by UniProtKB:Q13825-1 and that has had the transit peptide removed. Example: UniProtKB:Q13825-1, 68-339, Ala-240, CHEBI:30015." [PRO:DNx, Reactome:R-HSA-9914316]
comment: Category=organism-modification.
synonym: "hAUH/var:A240V/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "A240V AUH" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9914316]
synonym: "UniProtKB:Q13825, 68-339, Ala-240, CHEBI:30015" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q13825-1, 68-339, Ala-240, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9914316 "PR:000085939 located_in GO:0005759"
is_a: PR:Q13825 ! methylglutaconyl-CoA hydratase, mitochondrial (human)
relationship: lacks_part SO:0000725 ! transit_peptide
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens