RYR1-related myopathy: genes and variants
RYR1-related myopathy is linked to 1 analyzed protein (RYR1). 3 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 RYR1-related myopathy
RYR1: Ryanodine receptor 1
It releases calcium from the skeletal-muscle sarcoplasmic reticulum when Cav1.1 senses membrane depolarization, directly coupling excitation to contraction. Pathogenic variants cause malignant-hyperthermia susceptibility and a broad spectrum of congenital RYR1-related myopathies.
3 disease-causing and 3 uncertain variants in RYR1 are linked to RYR1-related myopathy.
Known disease-causing variants in RYR1-related myopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RYR1 S4830P | 4830 | Cytoplasmic | Disease-causing (★) |
| RYR1 F4921L | 4921 | Transmembrane | Disease-causing (★) |
| RYR1 M115I | 115 | MIR 1 | Disease-causing (★) |
Same protein, different disease
- Central core myopathy is also caused by RYR1 variants; they fall mostly in different places as the RYR1-related myopathy variants (8 disease-causing).
- King Denborough syndrome is also caused by RYR1 variants; they fall mostly in different places as the RYR1-related myopathy variants (4 disease-causing).
- Centronuclear myopathy is also caused by RYR1 variants; they fall mostly in different places as the RYR1-related myopathy variants (3 disease-causing).
Diseases related to RYR1-related myopathy
- Central core myopathy, also linked to RYR1
- Fetal akinesia deformation sequence, also linked to RYR1
- Myopathy, also linked to RYR1
- Centronuclear myopathy, also linked to RYR1
- King Denborough syndrome, also linked to RYR1
- Arthrogryposis multiplex congenita, also linked to RYR1
- Congenital multicore myopathy with external ophthalmoplegia, also linked to RYR1
Frequently asked questions
Which genes are linked to RYR1-related myopathy?
In CATVariant, RYR1-related myopathy is linked to 1 analyzed protein: RYR1 (Ryanodine receptor 1).
How many genetic variants are linked to RYR1-related myopathy?
13 variants: 3 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 RYR1-related myopathy 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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