Desmin-related myofibrillar myopathy: genes and variants
Desmin-related myofibrillar myopathy is linked to 1 analyzed protein (DES). 37 DNA variants are known to cause it; 475 more are uncertain, and 5 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Desmin-related myofibrillar myopathy
DES: Desmin
Its desmin filaments mechanically integrate sarcomeres with the nucleus, mitochondria, and cell junctions in striated muscle. Pathogenic variants cause desmin-related myopathy and can produce cardiomyopathy, conduction disease, and skeletal-muscle weakness.
37 disease-causing and 475 uncertain variants in DES are linked to Desmin-related myofibrillar myopathy.
Where Desmin-related myofibrillar myopathy variants cluster
- DES Interaction with NEB (positions 268–415): 22 of 37 disease-causing changes, 1.9× more than its size predicts.
- DES Coil 1A (positions 109–141): 6 of 37 disease-causing changes, 2.3× more than its size predicts.
Known disease-causing variants in Desmin-related myofibrillar myopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| DES E401D | 401 | IF rod | Disease-causing (★★) |
| DES E401G | 401 | IF rod | Disease-causing (★★) |
| DES K449T | 449 | Interaction with CRYAB | Disease-causing (★★) |
| DES N116S | 116 | IF rod | Disease-causing (★★) |
| DES A120P | 120 | IF rod | Disease-causing (★★) |
| DES L338R | 338 | IF rod | Disease-causing (★★) |
| DES L345P | 345 | IF rod | Disease-causing (★★) |
| DES R406W | 406 | IF rod | Disease-causing (★★) |
| DES S12F | 12 | Head | Disease-causing (★★) |
| DES L377P | 377 | IF rod | Disease-causing (★★) |
| DES H384R | 384 | IF rod | Disease-causing (★★) |
| DES R454W | 454 | Tail | Disease-causing (★★) |
| DES S2I | 2 | Head | Disease-causing (★★) |
| DES S13F | 13 | Head | Disease-causing (★★) |
| DES E245D | 245 | IF rod | Disease-causing (★★) |
| DES R350P | 350 | IF rod | Disease-causing (★★) |
| DES L370P | 370 | IF rod | Disease-causing (★★) |
| DES E413K | 413 | IF rod | Disease-causing (★★) |
| DES P419S | 419 | Tail | Disease-causing (★★) |
| DES T442I | 442 | Interaction with CRYAB | Disease-causing (★★) |
| DES L115F | 115 | IF rod | Disease-causing (★) |
| DES L115I | 115 | IF rod | Disease-causing (★) |
| DES L338P | 338 | IF rod | Disease-causing (★) |
| DES E401K | 401 | IF rod | Disease-causing (★) |
| DES R127C | 127 | IF rod | Disease-causing (★) |
| DES A120D | 120 | IF rod | Disease-causing (★) |
| DES Q348P | 348 | IF rod | Disease-causing (★) |
| DES R406P | 406 | IF rod | Disease-causing (★) |
| DES R383P | 383 | IF rod | Disease-causing (★) |
| DES L274P | 274 | IF rod | Disease-causing (★) |
| DES N342D | 342 | IF rod | Disease-causing (★) |
| DES L352S | 352 | IF rod | Disease-causing (★) |
| DES M1T | 1 | Disease-causing (★) | |
| DES A317P | 317 | IF rod | Disease-causing (★) |
| DES A285V | 285 | IF rod | Disease-causing |
| DES A360P | 360 | IF rod | Disease-causing |
| DES Q389P | 389 | IF rod | Disease-causing |
Uncertain variants in Desmin-related myofibrillar myopathy that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| DES R383H | 383 | IF rod | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; R383P at the same position is pathogenic; REVEL 0.832 |
| DES R350W | 350 | IF rod | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; R350P at the same position is pathogenic; REVEL 0.853 |
| DES L115P | 115 | IF rod | Uncertain (★) | +6: 3 other pathogenic changes within 3 positions; L115F at the same position is pathogenic; REVEL 0.992 |
| DES R350Q | 350 | IF rod | Uncertain (★★) | +6: 3 other pathogenic changes within 3 positions; R350P at the same position is pathogenic; REVEL 0.813 |
| DES R383C | 383 | IF rod | Uncertain (★★) | +6: 2 other pathogenic changes within 3 positions; R383P at the same position is pathogenic; REVEL 0.777 |
Diseases related to Desmin-related myofibrillar myopathy
- Dilated cardiomyopathy, also linked to DES
- Primary dilated cardiomyopathy, also linked to DES
- Myofibrillar myopathy, also linked to DES
- Primary familial dilated cardiomyopathy, also linked to DES
- Arrhythmogenic right ventricular cardiomyopathy, also linked to DES
- Familial isolated dilated cardiomyopathy, also linked to DES
- Limb-girdle muscular dystrophy, also linked to DES
- Neurogenic scapuloperoneal syndrome, Kaeser type, also linked to DES
Frequently asked questions
Which genes are linked to Desmin-related myofibrillar myopathy?
In CATVariant, Desmin-related myofibrillar myopathy is linked to 1 analyzed protein: DES (Desmin).
How many genetic variants are linked to Desmin-related myofibrillar myopathy?
513 variants: 37 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 475 are of uncertain significance or have conflicting reports.
Which uncertain variants in Desmin-related myofibrillar myopathy look disease-causing?
5 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example DES R383H, DES R350W, DES L115P, DES R350Q and DES R383C. 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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