PR:000026118	methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB S173L (human)	hMCCC2/var:MCCB S173L|UniProtKB:Q9HCC0-1, Ser-173, CHEBI:30006		associated_with_disease_progression	DOID:0050710	3-Methylcrotonyl-CoA carboxylase deficiency			PMID:11181649	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_012795	20101130	PRO:CNA	Note=Severe form of disease.