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Protein Ontology report - methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA A289V (human) PR:000026114 - http://purl.obolibrary.org/obo/PR_000026114        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000026114      PRO name methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA A289V (human)    Synonyms PRO-Short-label: EXACT: hMCCC1/var:MCCA A289V PRO-proteoform-std: EXACT: UniProtKB:Q96RQ3, Ala-289, CHEBI:30015   Definition "A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human) that has a Val residue at the position equivalent to Ala-289 of the amino acid sequence represented by UniProtKB:Q96RQ3. UniProtKB:Q96RQ3, Ala-289, CHEBI:30015." [PMID:11181649, PRO:CNA, PRO:DAN]    PRO Category organism-sequence    Parent PR:000026110 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human)   Taxon NCBITaxon:9606 Homo sapiens   Term Hierarchy   Visualization DAG: OLS: Back to top Related Cross References   Db identifiers UniProtKB_VAR:VAR_012785 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000026114 hMCCC1/var:MCCA A289V UniProtKB:Q96RQ3, Ala-289, CHEBI:30015 "A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human) that has a Val residue at the position equivalent to Ala-289 of the amino acid sequence represented by UniProtKB:Q96RQ3. UniProtKB:Q96RQ3, Ala-289, CHEBI:30015." [PMID:11181649, PRO:CNA, PRO:DAN] associated_with_disease_progression DO:0050710 3-methylcrotonyl-CoA carboxylase deficiency PMID:11181649 located_in SO:0001559 polypeptide_loss_of_function_variant PMID:11181649