[Term]
id: PR:000085824
name: enoyl-CoA hydratase, mitochondrial sequence variant A238V, transit peptide removed form (human)
def: "An enoyl-CoA hydratase, mitochondrial (human) that has a Val residue at the position equivalent to Ala-238 of the amino acid sequence represented by UniProtKB:P30084 and that has had the transit peptide removed. UniProtKB:P30084, 28-290, Ala-238, CHEBI:30015." [PRO:DNx, Reactome:R-HSA-9916686]
comment: Category=organism-modification.
synonym: "hECHS1/var:A238V/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "A238V ECHS1" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9916686]
synonym: "UniProtKB:P30084, 28-290, Ala-238, CHEBI:30015" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9916686 "PR:000085824 located_in GO:0005759"
is_a: PR:P30084 ! enoyl-CoA hydratase, mitochondrial (human)
relationship: lacks_part SO:0000725 ! transit_peptide
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens