PR:000026114	methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA A289V (human)	hMCCC1/var:MCCA A289V|UniProtKB:Q96RQ3, Ala-289, CHEBI:30015		associated_with_disease_progression	DOID:0050710	3-Methylcrotonyl-CoA carboxylase deficiency			PMID:11181649	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_012785	20101130	PRO:CNA	Note=Mild form of disease
PR:000026114	methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA A289V (human)	hMCCC1/var:MCCA A289V|UniProtKB:Q96RQ3, Ala-289, CHEBI:30015		has_agent	SO:0001559	polypeptide_loss_of_function_variant			PMID:11181649	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_012785	20101130	PRO:CNA