Progressive myositis ossificans: genes and variants
Progressive myositis ossificans is linked to 1 analyzed protein (ACVR1). 9 DNA variants are known to cause it; 3 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Progressive myositis ossificans
ACVR1: Activin receptor type-1
It transduces BMP-family signals that regulate bone formation and developmental patterning. Recurrent activating variants cause fibrodysplasia ossificans progressiva by making connective-tissue cells abnormally responsive to osteogenic signaling, and somatic variants also occur in diffuse midline glioma.
9 disease-causing and 3 uncertain variants in ACVR1 are linked to Progressive myositis ossificans.
Where Progressive myositis ossificans variants cluster
- ACVR1 GS (positions 178–207): 3 of 9 disease-causing changes, 5.7× more than its size predicts.
Known disease-causing variants in Progressive myositis ossificans
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ACVR1 G328E | 328 | Protein kinase | Disease-causing (★★) |
| ACVR1 R206H | 206 | GS | Disease-causing (★★) |
| ACVR1 G356D | 356 | Protein kinase | Disease-causing (★★) |
| ACVR1 R258G | 258 | Protein kinase | Disease-causing (★) |
| ACVR1 R258S | 258 | Protein kinase | Disease-causing |
| ACVR1 G328W | 328 | Protein kinase | Disease-causing |
| ACVR1 L196P | 196 | GS | Disease-causing |
| ACVR1 R202I | 202 | GS | Disease-causing |
| ACVR1 R375P | 375 | Protein kinase | Disease-causing |
Diseases related to Progressive myositis ossificans
- Primary myelofibrosis, also linked to ACVR1
Frequently asked questions
Which genes are linked to Progressive myositis ossificans?
In CATVariant, Progressive myositis ossificans is linked to 1 analyzed protein: ACVR1 (Activin receptor type-1).
How many genetic variants are linked to Progressive myositis ossificans?
16 variants: 9 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 3 are of uncertain significance or have conflicting reports.
Which uncertain variants in Progressive myositis ossificans look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
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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