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Protein Ontology report - methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB S173L (human) PR:000026118 - http://purl.obolibrary.org/obo/PR_000026118        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000026118      PRO name methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB S173L (human)    Synonyms PRO-Short-label: EXACT: hMCCC2/var:MCCB S173L PRO-proteoform-std: EXACT: UniProtKB:Q9HCC0, Ser-173, CHEBI:30006 NARROW: 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)   Taxon NCBITaxon:9606 Homo sapiens   Term Hierarchy   Visualization DAG: OLS: Back to top Related Cross References   Db identifiers UniProtKB_VAR:VAR_012795 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000026118 hMCCC2/var:MCCB S173L UniProtKB:Q9HCC0, Ser-173, CHEBI:30006 | UniProtKB:Q9HCC0-1, Ser-173, CHEBI:30006 "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] associated_with_disease_progression DO:0050710 3-methylcrotonyl-CoA carboxylase deficiency PMID:11181649