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Protein Ontology Report - hMCCC1/var:MCCA L437P

PR:000026112 - http://purl.obolibrary.org/obo/PR_000026112
Ontology Information
PRO ID PR:000026112 Show OBO stanza / PAF / GPI
PRO name methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA L437P (human)
Synonyms
PRO-short-label: EXACT: hMCCC1/var:MCCA L437P
PRO-proteoform-std: EXACT: UniProtKB:Q96RQ3, Leu-437, CHEBI:50342
Definition A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human) that has a Pro residue at the position equivalent to Leu-437 of the amino acid sequence represented by UniProtKB:Q96RQ3. UniProtKB:Q96RQ3, Leu-437, CHEBI:50342. [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     Cytoscape


Interactive Sequence View Select/align proteoforms across species

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

Functional Annotation
PRO Term GO Annotation Evidence
PR:000026112
hMCCC1/var:MCCA L437P
Leu-437, CHEBI:50342
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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