MCCC1 (Q96RQ3) variants and mutations

MCCC1 (also known as Q96RQ3) is a human protein-coding gene encoding a methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial protein. It provides one subunit of mitochondrial methylcrotonyl-CoA carboxylase, an enzyme required for leucine degradation. Biallelic loss-of-function variants cause 3-methylcrotonyl-CoA carboxylase deficiency, with clinical severity ranging from asymptomatic biochemical abnormalities to metabolic decompensation. This analysis covers 1,096 MCCC1 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes Isolated 3-methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, and hereditary disease. Example MCCC1 variants include M1T, M1V, and A2E.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable MCCC1 variants

Examples include M1T, M1V, A2E, A2T, A2V, A3V, A4V, S5A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.