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Protein Ontology report - methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB IVS3+5G->T (human) PR:000026123 - http://purl.obolibrary.org/obo/PR_000026123        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000026123      PRO name methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB IVS3+5G->T (human)    Synonyms PRO-Short-label: EXACT: hMCCC2/var:MCCB IVS3+5G->T   Definition "A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that results from a nucleotide change leading to skipping of exon 3, frameshift, and early truncation of the amino acid sequence represented by UniProtKB:Q9HCC0-1." [PMID:11170888, 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 Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000026123 hMCCC2/var:MCCB IVS3+5G->T "A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that results from a nucleotide change leading to skipping of exon 3, frameshift, and early truncation of the amino acid sequence represented by UniProtKB:Q9HCC0-1." [PMID:11170888, PRO:CNA] associated_with_disease_progression DO:0050710 3-methylcrotonyl-CoA carboxylase deficiency PMID:11170888