MMUT

Chr 6

methylmalonyl-CoA mutase

Also known as: MCM, MUT

NCBI Gene: 4594ENSG00000146085UniProt: P22033

This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Clinical highlights

Gene-disease validity (ClinGen)
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
2
Active trials
41
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.23
LOEUF
LOF
Mechanism· G2P
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GeneReview available — MMUT
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.23LOEUF
pLI 0.000
Z-score 0.40
OE 0.93 (0.71–1.23)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.23Z-score
OE missense 0.97 (0.89–1.05)
401 obs / 414.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.93 (0.71–1.23)
0≤0.351.4
Missense OE?0.97 (0.89–1.05)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 35 / 37.7Missense obs/exp: 401 / 414.1Syn Z: 0.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MMUT · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients