PR:000026113	methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA R385S (human)	hMCCC1/var:MCCA R385S|UniProtKB:Q96RQ3, Arg-385, CHEBI:29999		associated_with_disease_progression	DOID:0050710	3-Methylcrotonyl-CoA carboxylase deficiency			PMID:11181649	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_012787	20101130	PRO:CNA	Note=Severe form of disease.
PR:000026113	methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA R385S (human)	hMCCC1/var:MCCA R385S|UniProtKB:Q96RQ3, Arg-385, CHEBI:29999		has_agent	SO:0001559	polypeptide_loss_of_function_variant			PMID:11181649	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_012787	20101130	PRO:CNA