Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency: genes and variants
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency is linked to 1 analyzed protein (MMUT). 53 DNA variants are known to cause it; 10 more are uncertain, and 1 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
MMUT: Methylmalonyl-CoA mutase, mitochondrial
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.
53 disease-causing and 10 uncertain variants in MMUT are linked to Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency.
Known disease-causing variants in Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MMUT G94R | 94 | Disease-causing (★★) | |
| MMUT G215S | 215 | Disease-causing (★★) | |
| MMUT G215C | 215 | Disease-causing (★★) | |
| MMUT R326K | 326 | Disease-causing (★★) | |
| MMUT R326G | 326 | Disease-causing (★★) | |
| MMUT R93H | 93 | Disease-causing (★★) | |
| MMUT R93C | 93 | Disease-causing (★★) | |
| MMUT G94V | 94 | Disease-causing (★★) | |
| MMUT R108H | 108 | Disease-causing (★★) | |
| MMUT R108C | 108 | Disease-causing (★★) | |
| MMUT R369C | 369 | Disease-causing (★★) | |
| MMUT R369H | 369 | Disease-causing (★★) | |
| MMUT W105R | 105 | Disease-causing (★★) | |
| MMUT A141E | 141 | Disease-causing (★★) | |
| MMUT G145S | 145 | Disease-causing (★★) | |
| MMUT T230R | 230 | Disease-causing (★★) | |
| MMUT L305S | 305 | Disease-causing (★★) | |
| MMUT A324T | 324 | Disease-causing (★★) | |
| MMUT L358P | 358 | Disease-causing (★★) | |
| MMUT T387P | 387 | Disease-causing (★★) | |
| MMUT R616C | 616 | B12-binding | Disease-causing (★★) |
| MMUT G670R | 670 | B12-binding | Disease-causing (★★) |
| MMUT P86L | 86 | Disease-causing (★★) | |
| MMUT A191E | 191 | Disease-causing (★★) | |
| MMUT Q218H | 218 | Disease-causing (★★) | |
| MMUT N219Y | 219 | Disease-causing (★★) | |
| MMUT Y316C | 316 | Disease-causing (★★) | |
| MMUT L328P | 328 | Disease-causing (★★) | |
| MMUT T370P | 370 | Disease-causing (★★) | |
| MMUT A377E | 377 | Disease-causing (★★) | |
| MMUT R403Q | 403 | Disease-causing (★★) | |
| MMUT G426R | 426 | Disease-causing (★★) | |
| MMUT G427D | 427 | Disease-causing (★★) | |
| MMUT Y429C | 429 | Disease-causing (★★) | |
| MMUT G623R | 623 | B12-binding | Disease-causing (★★) |
| MMUT H627R | 627 | B12-binding | Disease-causing (★★) |
| MMUT G630E | 630 | B12-binding | Disease-causing (★★) |
| MMUT G642R | 642 | B12-binding | Disease-causing (★★) |
| MMUT G717V | 717 | B12-binding | Disease-causing (★★) |
| MMUT Y110C | 110 | Disease-causing (★★) | |
| MMUT G203R | 203 | Disease-causing (★★) | |
| MMUT L674F | 674 | B12-binding | Disease-causing (★★) |
| MMUT A555T | 555 | Disease-causing (★★) | |
| MMUT A676T | 676 | B12-binding | Disease-causing (★★) |
| MMUT R694W | 694 | B12-binding | Disease-causing (★★) |
| MMUT M1T | 1 | Disease-causing (★★) | |
| MMUT V136F | 136 | Disease-causing (★★) | |
| MMUT Q109R | 109 | Disease-causing (★) | |
| MMUT H143Y | 143 | Disease-causing (★) | |
| MMUT G161R | 161 | Disease-causing (★) | |
| MMUT F337L | 337 | Disease-causing (★) | |
| MMUT G87E | 87 | Disease-causing (★) | |
| MMUT G454E | 454 | Disease-causing (★) |
Uncertain variants in Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| MMUT A141V | 141 | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; A141E at the same position is pathogenic; REVEL 0.866 |
Same protein, different disease
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency is also caused by MMUT variants; they fall partly in the same places as the Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency variants (55 disease-causing).
- Methylmalonic acidemia is also caused by MMUT variants; they fall in the same places as the Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency variants (32 disease-causing).
Diseases related to Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, also linked to MMUT
- Methylmalonic acidemia, also linked to MMUT
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, also linked to MMUT
- Likely inborn error of metabolism, also linked to MMUT
Frequently asked questions
Which genes are linked to Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency?
In CATVariant, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency is linked to 1 analyzed protein: MMUT (Methylmalonyl-CoA mutase, mitochondrial).
How many genetic variants are linked to Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency?
63 variants: 53 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 10 are of uncertain significance or have conflicting reports.
Which uncertain variants in Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency look disease-causing?
1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example MMUT A141V. These are leads for expert review, not diagnoses.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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