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Protein Ontology report - methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant D172fs (human) PR:000026122 - http://purl.obolibrary.org/obo/PR_000026122        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000026122      PRO name methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant D172fs (human)    Synonyms PRO-Short-label: EXACT: hMCCC2/var:D172fs PRO-proteoform-std: EXACT: UniProtKB:Q9HCC0, 1-172 NARROW: UniProtKB:Q9HCC0-1, 1-172 Other: EXACT: MCC beta D172fs (human) | MCCB D172fs (human)   Definition "A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that is a truncated variant due to a frameshift caused by nucleotide insertion. The sequence in this variant is truncated after residue Asp-172 of the amino acid sequence represented by UniProtKB:Q9HCC0. UniProtKB:Q9HCC0, 1-172." [PMID:11170888, PRO:CNA, PRO:DAN]    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 Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000026122 hMCCC2/var:D172fs UniProtKB:Q9HCC0, 1-172 associated_with_disease_progression DO:0050710 3-methylcrotonyl-CoA carboxylase deficiency PMID:11170888