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Protein Ontology Report - hMCCC2/var:MCCB S173L

PR:000026118 - http://purl.obolibrary.org/obo/PR_000026118
Ontology Information
PRO ID PR:000026118 Show OBO stanza / PAF
PRO name methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB S173L (human)
Synonyms
PRO-short-label: hMCCC2/var:MCCB S173L
PRO-proteoform-std: UniProtKB:Q9HCC0-1, Ser-173, CHEBI:30006
Definition A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that has a Leu residue at the position equivalent to Ser-173 of the amino acid sequence represented by UniProtKB:Q9HCC0-1. Example: UniProtKB:Q9HCC0-1, Ser-173, CHEBI:30006. [PMID:11181649, PRO:CNA]
PRO Category organism-sequence
Parent PR:000026117 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human)
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Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000026118
hMCCC2/var:MCCB S173L
Ser-173, CHEBI:30006
associated_with_disease_progression DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency PMID:11181649

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