MMUT Chromosome 6

Methylmalonyl-CoA mutase

368 variants 368 Health Risk

Upload your DNA to see your personal genotypes for variants in MMUT.

What This Gene Does

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]

Associated Conditions (18)

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

MMUT-related disorder

Methylmalonic acidemia

Peroxisome biogenesis disorder 8A (Zellweger)

Peroxisome biogenesis disorder 8B

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

METHYLMALONIC ACIDURIA

mut(0) TYPE

mut(-) TYPE

Ovarian serous cystadenocarcinoma

Abnormality of metabolism/homeostasis

Likely inborn error of metabolism

Neonatal encephalopathy

See cases

Lung cancer

Methylmalonic aciduria

Familial cancer of breast

Key Variants

RS1085307929

Conflicting classifications of pathogenicity

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Health Risk

RS115923556

Conflicting classifications of pathogenicity

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, MMUT-related disorder

Health Risk

RS1184586094

Conflicting classifications of pathogenicity

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Health Risk

RS1369724342

Conflicting classifications of pathogenicity

Methylmalonic acidemia, Methylmalonic acidemia

Health Risk

RS137958217

Conflicting classifications of pathogenicity

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Health Risk

RS138374956

Conflicting classifications of pathogenicity

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, MMUT-related disorder

Health Risk

RS140727018

Conflicting classifications of pathogenicity

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Health Risk

RS145682249

Conflicting classifications of pathogenicity

Health Risk

RS1467385866

Conflicting classifications of pathogenicity

Health Risk

RS148091558

Conflicting classifications of pathogenicity

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, MMUT-related disorder

Health Risk

RS148331800

Conflicting classifications of pathogenicity

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Health Risk

RS150095448

Conflicting classifications of pathogenicity

Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Health Risk

All Variants (368)

RSID	Category	Clinical Significance	Conditions
RS1767770379	Health Risk	Pathogenic	—
RS199668104	Health Risk	Pathogenic	—
RS200019422	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS200596762	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS200735240	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS2127412070	Health Risk	Pathogenic	—
RS2127412094	Health Risk	Pathogenic	—
RS2127413347	Health Risk	Pathogenic	—
RS2127414718	Health Risk	Pathogenic	—
RS2127415956	Health Risk	Pathogenic	Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS2127416017	Health Risk	Pathogenic	—
RS2127416800	Health Risk	Pathogenic	—
RS2127416819	Health Risk	Pathogenic	—
RS2127416851	Health Risk	Pathogenic	—
RS2127417197	Health Risk	Pathogenic	—
RS2127417899	Health Risk	Pathogenic	—
RS2127417916	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS2127417955	Health Risk	Pathogenic	—
RS2127418623	Health Risk	Pathogenic	—
RS2127418705	Health Risk	Pathogenic	Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS2127419920	Health Risk	Pathogenic	METHYLMALONIC ACIDURIA, mut(-) TYPE, METHYLMALONIC ACIDURIA
RS2127420039	Health Risk	Pathogenic	—
RS2127420062	Health Risk	Pathogenic	—
RS2127420439	Health Risk	Pathogenic	—
RS2481310544	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS2481310789	Health Risk	Pathogenic	—
RS2481326895	Health Risk	Pathogenic	—
RS2481333863	Health Risk	Pathogenic	—
RS2481334478	Health Risk	Pathogenic	—
RS2481339003	Health Risk	Pathogenic	—
RS2481339188	Health Risk	Pathogenic	—
RS2481339303	Health Risk	Pathogenic	Neonatal encephalopathy, Neonatal encephalopathy
RS2481343909	Health Risk	Pathogenic	—
RS2481346423	Health Risk	Pathogenic	—
RS2481347058	Health Risk	Pathogenic	—
RS2481347095	Health Risk	Pathogenic	Methylmalonic acidemia, Methylmalonic acidemia
RS2481347349	Health Risk	Pathogenic	—
RS2481347763	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS2481347809	Health Risk	Pathogenic	—
RS2481350198	Health Risk	Pathogenic	—
RS2481350413	Health Risk	Pathogenic	—
RS2481350851	Health Risk	Pathogenic	—
RS2481350917	Health Risk	Pathogenic	—
RS398123278	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS533755473	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS535411418	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS543029288	Health Risk	Pathogenic	Lung cancer, Lung cancer
RS564069299	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS746085723	Health Risk	Pathogenic	Methylmalonic acidemia, Methylmalonic acidemia
RS746274670	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Likely inborn error of metabolism, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

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