MMUT (P22033) variants and mutations

MMUT (also known as P22033) is a human protein-coding gene encoding a methylmalonyl-CoA mutase, mitochondrial protein. It converts methylmalonyl-CoA to succinyl-CoA in mitochondria using adenosylcobalamin as a cofactor. Biallelic loss-of-function variants cause isolated methylmalonic acidemia, which can lead to metabolic acidosis, hyperammonemia, neurologic injury, and chronic kidney disease. This analysis covers 1,295 MMUT variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, vitamin B12-unresponsive methylmalonic acidemia type mut0, and methylmalonic acidemia. Example MMUT variants include M1T, L2F, and R3*.

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 MMUT variants

Examples include M1T, L2F, R3*, R3K, K5N, N6K, N6S, Q7*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.