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Protein Ontology Report - hMCCC2/var:D172fs

PR:000026122 - http://purl.obolibrary.org/obo/PR_000026122
Ontology Information
PRO ID PR:000026122 Show OBO stanza / PAF / GPI
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     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:000026122
hMCCC2/var:D172fs
associated_with_disease_progression DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency PMID:11170888

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