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.
PR:000026119	methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB E99Q (human)	hMCCC2/var:MCCB E99Q|UniProtKB:Q9HCC0-1, Glu-99, CHEBI:30011		associated_with_disease_progression	DOID:0050710	3-Methylcrotonyl-CoA carboxylase deficiency			PMID:11181649	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_012792	20101130	PRO:CNA	Note=Severe and mild forms of disease
PR:000026120	methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB V339M (human)	hMCCC2/var:MCCB V339M|UniProtKB:Q9HCC0-1, Val-339, CHEBI:16044		associated_with_disease_progression	DOID:0050710	3-Methylcrotonyl-CoA carboxylase deficiency			PMID:11181649	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_012800	20101130	PRO:CNA	Note=Severe form of disease
PR:000026121	methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB I437V (human)	hMCCC2/var:MCCB I437V		associated_with_disease_progression	DOID:0050710	3-Methylcrotonyl-CoA carboxylase deficiency			PMID:11181649	EXP	NCBITaxon:9606			20101130	PRO:CNA	Note=Mild form of disease
PR:000026121	methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB I437V (human)	hMCCC2/var:MCCB I437V		has_agent	SO:0001569	cryptic_splice_site_variant			PMID:11181649	EXP	NCBITaxon:9606			20101130	PRO:CNA	
PR:000026122	methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant D172fs (human)	hMCCC2/var:D172fs|MCC beta D172fs (human)|MCCB D172fs (human)|UniProtKB:Q9HCC0, 1-172|UniProtKB:Q9HCC0-1, 1-172		associated_with_disease_progression	DOID:0050710	3-Methylcrotonyl-CoA carboxylase deficiency			PMID:11170888	EXP	NCBITaxon:9606			20101130	PRO:CNA	
PR:000026123	methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB IVS3+5G->T (human)	hMCCC2/var:MCCB IVS3+5G->T		associated_with_disease_progression	DOID:0050710	3-Methylcrotonyl-CoA carboxylase deficiency			PMID:11170888	EXP	NCBITaxon:9606			20101130	PRO:CNA