[Term]
id: PR:000026113
name: methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA R385S (human)
def: "A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human) that has a Ser residue at the position equivalent to Arg-385 of the amino acid sequence represented by UniProtKB:Q96RQ3. UniProtKB:Q96RQ3, Arg-385, CHEBI:29999." [PRO:CNA, PRO:DAN, PMID:11181649]
comment: Category=organism-sequence.
synonym: "hMCCC1/var:MCCA R385S" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q96RQ3, Arg-385, CHEBI:29999" EXACT PRO-proteoform-std [PRO:DAN]
xref: UniProtKB_VAR:VAR_012787
is_a: PR:000026110 ! methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens