PRO_ID Object_term Object_syny Modifier Relation Ontology_ID Ontology_term Relative_to Interaction_with Evidence_source Evidence_code Taxon Inferred_from DB_ID Date Assigned_by Comment PR:000026111 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA D532H (human) hMCCC1/var:MCCA D532H associated_with_disease_progression DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency PMID:11181649 EXP NCBITaxon:9606 20101130 PRO:CNA Note=Severe form of disease. PR:000026111 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA D532H (human) hMCCC1/var:MCCA D532H has_agent SO:0001630 splice_region_variant PMID:11181649 EXP NCBITaxon:9606 20101130 PRO:CNA PR:000026112 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA L437P (human) hMCCC1/var:MCCA L437P|UniProtKB:Q96RQ3, Leu-437, CHEBI:50342 has_agent SO:0001559 polypeptide_loss_of_function_variant PMID:11181649 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_012788 20101130 PRO:CNA PR:000026112 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA L437P (human) hMCCC1/var:MCCA L437P|UniProtKB:Q96RQ3, Leu-437, CHEBI:50342 associated_with_disease_progression DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency PMID:11181649 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_012788 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 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: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 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