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Protein Ontology Report - hMCCC2/var:MCCB E99Q

PR:000026119 - http://purl.obolibrary.org/obo/PR_000026119
Ontology Information
PRO ID PR:000026119 Show OBO stanza / PAF
PRO name methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB E99Q (human)
Synonyms
PRO-short-label: hMCCC2/var:MCCB E99Q
PRO-proteoform-std: UniProtKB:Q9HCC0-1, Glu-99, CHEBI:30011
Definition A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that has a Gln residue at the position equivalent to Glu-99 of the amino acid sequence represented by UniProtKB:Q9HCC0-1. Example: UniProtKB:Q9HCC0-1, Glu-99, CHEBI:30011. [PMID:11181649, PRO:CNA]
PRO Category organism-sequence
Parent PR:000026117 methylcrotonoyl-CoA carboxylase beta chain, 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:000026119
hMCCC2/var:MCCB E99Q
Glu-99, CHEBI:30011
associated_with_disease_progression DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency PMID:11181649

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