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Protein Ontology Report - hMCCC1/var:MCCA R385S

PR:000026113 - http://purl.obolibrary.org/obo/PR_000026113
Ontology Information
PRO ID PR:000026113 Show OBO stanza / PAF
PRO name methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA R385S (human)
Synonyms
PRO-short-label: hMCCC1/var:MCCA R385S
PRO-proteoform-std: UniProtKB:Q96RQ3, Arg-385, CHEBI:29999
Definition A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human) that has a Ser residue at the position equivalent to Arg-385 of the amino acid sequence represented by UniProtKB:Q96RQ3. UniProtKB:Q96RQ3, Arg-385, CHEBI:29999. [PMID:11181649, PRO:CNA, PRO:DAN]
PRO Category organism-sequence
Parent PR:000026110 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human)
Term Hierarchy Visualization DAG     OLS     Cytoscape


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Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000026113
hMCCC1/var:MCCA R385S
Arg-385, CHEBI:29999 		associated_with_disease_progression DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency PMID:11181649
has_agent SO:0001559 polypeptide_loss_of_function_variant PMID:11181649

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