[Term]
id: PR:000026114
name: methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA A289V (human)
def: "A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human) that has a Val residue at the position equivalent to Ala-289 of the amino acid sequence represented by UniProtKB:Q96RQ3. UniProtKB:Q96RQ3, Ala-289, CHEBI:30015." [PRO:CNA, PRO:DAN, PMID:11181649]
comment: Category=organism-sequence.
synonym: "hMCCC1/var:MCCA A289V" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q96RQ3, Ala-289, CHEBI:30015" EXACT PRO-proteoform-std [PRO:DAN]
xref: UniProtKB_VAR:VAR_012785
is_a: PR:000026110 ! methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens