This page details the annotation of RYR2 with disease causing variants in the following paralogues: RYR1, RYR3. Click here to see the multiple sequence alignment of RYR2 with all paralogues.
The paralogue variant mappings to RYR2 are based on the Locus Reference Genomic entry for RYR2 - LRG_402. This is based on the transcript ENST00000366574 and protein ENSP00000355533 (4967 amino acids) for the Ensembl gene ENSG00000198626.
Amino acid residues of RYR2 with mapped disease-causing missense variants from paralogues are shown below, along with details about the RYR2 protein domain and known missense variant status for these residues (the number of published reports for the residue is in parentheses), the consensus from the M-Coffee multiple sequence alignment at this mapping and the disease(s) associated with the paralogue variant(s). Click on the residue to see further details about the known RYR2 variants and the mapped paralogue variants.
| Residue | Domain | Known Variant Status | Consensus | Mapped Paralogues and Variant Disease |
|---|---|---|---|---|
| 14-L | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia, Myopathy, congenital with cores |
| 31-E | Cytoplasmic region | None | 9 | RYR1 - Atrioventricular septum defect |
| 34-K | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 36-C | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 41-G | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital |
| 42-F | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital |
| 45-R | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 52-T | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia ? |
| 53-S | Cytoplasmic region | None | 9 | RYR1 - Obesity, extreme |
| 61-D | Cytoplasmic region | None | 8 | RYR1 - Central core disease, Malignant hyperthermia |
| 65-C | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia ? |
| 72-S | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 122-R | Cytoplasmic region | None | 9 | RYR1 - Multi-minicore disease |
| 125-Y | Cytoplasmic region | None | 7 | RYR1 - Myopathy, congenital |
| 168-Q | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 169-R | Cytoplasmic region | Arrhythmia (6) | 9 | RYR1 - Central core disease, Malignant hyperthermia |
| 173-E | Cytoplasmic region | None | 9 | RYR1 - Central core disease |
| 176-R | Cytoplasmic region | None | 9 | RYR1 - Central core disease, Malignant hyperthermia ? |
| 178-G | Cytoplasmic region | Arrhythmia (1) | 9 | RYR1 - Malignant hyperthermia |
| 179-D | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 190-R | Cytoplasmic region | None | 6 | RYR1 - Malignant hyperthermia |
| 191-Y | Cytoplasmic region | None | 6 | RYR1 - Malignant hyperthermia |
| 229-I | Cytoplasmic region | Prob. Benign (0) | 7 | RYR1 - Malignant hyperthermia |
| 230-G | Cytoplasmic region | Arrhythmia (3) | 9 | RYR1 - Central core disease |
| 233-V | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 241-M | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 242-D | Cytoplasmic region | Arrhythmia (2) | 9 | RYR1 - Malignant hyperthermia |
| 264-G | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 299-H | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Ophthalmoplegia and malignant hyperthermia |
| 332-R | Cytoplasmic region | Arrhythmia (3) | 8 | RYR1 - Malignant hyperthermia |
| 344-K | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 357-G | Cytoplasmic region | Arrhythmia (3) | 9 | RYR1 - Malignant hyperthermia |
| 358-D | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 383-R | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 398-H | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia ? |
| 417-R | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 418-V | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital |
| 419-I | Cytoplasmic region | Arrhythmia (2) | 9 | RYR1 - Central core disease |
| 433-L | Cytoplasmic region | None | 5 | RYR1 - Myopathy, congenital |
| 476-Q | Cytoplasmic region | None | 7 | RYR1 - Distal arthrogryposis type IIA |
| 486-Q | Cytoplasmic region | None | 9 | RYR1 - Central core disease |
| 497-L | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 504-R | Cytoplasmic region | Prob. Benign (1) | 9 | RYR1 - Exertional heat illness |
| 524-E | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Central core disease |
| 534-Y | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 542-R | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 545-R | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 549-A | Cytoplasmic region | Arrhythmia (3) | 9 | RYR1 - Myopathy, congenital |
| 551-F | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 556-D | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 564-R | Cytoplasmic region | None | 8 | RYR1 - Malignant hyperthermia, Peripheral neuropathy |
| 586-L | Cytoplasmic region | None | 9 | RYR1 - Myopathy, RYR1-associated |
| 624-A | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 626-R | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 656-R | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital |
| 717-G | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital |
| 719-G | Cytoplasmic region | None | 9 | RYR1 - Multi-minicore disease |
| 720-D | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital |
| 747-H | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital, RYR1-related |
| 771-N | Cytoplasmic region | None | 9 | RYR1 - Myopathy, RYR1-associated |
| 775-V | Cytoplasmic region | Prob. Benign (0) | 7 | RYR1 - Muscular dystrophy |
| 801-R | Cytoplasmic region | Prob. Benign (1) | 9 | RYR1 - Myopathy, congenital |
| 842-Q | Cytoplasmic region | None | 8 | RYR1 - Rhabdomyolysis, exercise-induced |
| 850-L | Cytoplasmic region | None | 9 | RYR1 - Central core disease |
| 880-R | Cytoplasmic region | None | 9 | RYR1 - Central core disease |
| 891-E | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital |
| 897-K | Cytoplasmic region | None | 9 | RYR1 - Central core disease |
| 905-G | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital |
| 945-A | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia & exertional rhabdomyolosis |
| 998-K | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Myopathy, congenital |
| 1001-E | Cytoplasmic region | None | 9 | RYR1 - Multi-minicore disease |
| 1055-R | Cytoplasmic region | Prob. Benign (1) | 9 | RYR1 - Malignant hyperthermia |
| 1061-G | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Myopathy, congenital |
| 1068-D | Cytoplasmic region | None | 8 | RYR1 - Malignant hyperthermia |
| 1070-D | Cytoplasmic region | None | 5 | RYR1 - Malignant hyperthermia |
| 1089-R | Cytoplasmic region | Prob. Benign (0) | 8 | RYR1 - Myopathy, congenital |
| 1102-Y | Cytoplasmic region | None | 9 | RYR1 - Samaritan myopathy |
| 1135-F | Cytoplasmic region | None | 8 | RYR1 - Myopathy, congenital |
| 1141-K | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia equivocal with halotane |
| 1154-R | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 1164-C | Cytoplasmic region | None | 9 | RYR1 - Arthrogryposis multiplex congenita with axoglial d |
| 1179-G | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital |
| 1189-E | Cytoplasmic region | Prob. Benign (0) | 7 | RYR1 - Congenital myopathy |
| 1193-K | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital |
| 1233-Q | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 1281-P | Cytoplasmic region | None | 9 | RYR1 - Multi-minicore disease |
| 1286-T | Cytoplasmic region | None | 9 | RYR3 - Hyperinsulinism |
| 1307-P | Cytoplasmic region | None | 5 | RYR1 - Myopathy, congenital |
| 1354-L | Cytoplasmic region | None | 2 | RYR1 - Myopathy, congenital |
| 1364-E | Cytoplasmic region | None | 2 | RYR1 - Malignant hyperthermia, Rhabdomyolysis episodes |
| 1388-F | Cytoplasmic region | None | 1 | RYR1 - Malignant hyperthermia |
| 1461-R | Cytoplasmic region | None | 6 | RYR1 - Malignant hyperthermia equivocal with halotane |
| 1463-R | Cytoplasmic region | Prob. Benign (0) | 7 | RYR1 - Myopathy, congenital |
| 1505-L | Cytoplasmic region | None | 8 | RYR1 - Myopathy, congenital |
| 1515-S | Cytoplasmic region | None | 9 | RYR1 - Lethal multiple pterygium syndrome |
| 1563-V | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 1565-P | Cytoplasmic region | None | 9 | RYR1 - Nemaline myopathy |
| 1569-G | Cytoplasmic region | None | 9 | RYR1 - Multi-minicore disease |
| 1575-H | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 1584-P | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 1598-R | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital |
| 1665-C | Cytoplasmic region | None | 9 | RYR1 - Myopathy, RYR1-associated |
| 1669-N | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Myopathy, congenital |
| 1671-R | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 1696-G | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital with cores |
| 1699-R | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Myopathy, RYR1-associated |
| 1720-M | Cytoplasmic region | Prob. Benign (0) | 6 | RYR1 - Malignant hyperthermia |
| 1721-M | Cytoplasmic region | None | 6 | RYR1 - Malignant hyperthermia |
| 1724-E | Cytoplasmic region | Arrhythmia (3) | 9 | RYR1 - Central core disease |
| 1758-R | Cytoplasmic region | None | 8 | RYR1 - Myopathy, RYR1-associated |
| 1794-M | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 1817-L | Cytoplasmic region | Prob. Benign (0) | 8 | RYR1 - Myopathy, congenital |
| 1924-A | Cytoplasmic region | Prob. Benign (0) | 7 | RYR1 - Multi-minicore disease ? |
| 1964-E | Cytoplasmic region | None | 9 | RYR1 - Fetal hypokinesia |
| 1980-K | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2000-H | Cytoplasmic region | Prob. Benign (0) | 7 | RYR1 - Fibre type disproportion, congenital |
| 2066-M | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2081-V | Cytoplasmic region | None | 8 | RYR1 - Malignant hyperthermia |
| 2082-R | Cytoplasmic region | Prob. Benign (0) | 8 | RYR1 - Centronuclear myopathy |
| 2093-D | Cytoplasmic region | Prob. Benign (0) | 8 | RYR1 - Exertional myalgia and/or rhabdomyolysis, Malignant hyperthermia |
| 2094-G | Cytoplasmic region | Prob. Benign (0) | 8 | RYR1 - Malignant hyperthermia |
| 2096-G | Cytoplasmic region | None | 8 | RYR1 - Exertional myalgia and/or rhabdomyolysis |
| 2112-S | Cytoplasmic region | None | 7 | RYR1 - Muscular dystrophy |
| 2124-G | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia & exertional rhabdomyolosis |
| 2127-R | Cytoplasmic region | Arrhythmia (1) | 9 | RYR1 - Malignant hyperthermia |
| 2132-V | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2146-L | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 2164-A | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2168-H | Cytoplasmic region | Arrhythmia (3) | 9 | RYR1 - Multiminicore/minicore/multicore disease |
| 2170-T | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2174-V | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2176-V | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2178-V | Cytoplasmic region | Other Cardiac (2) | 9 | RYR1 - Malignant hyperthermia |
| 2201-C | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2212-K | Cytoplasmic region | Arrhythmia (2) | 9 | RYR1 - Malignant hyperthermia |
| 2217-H | Cytoplasmic region | Arrhythmia (2) | 7 | RYR1 - Malignant hyperthermia |
| 2241-D | Cytoplasmic region | None | 9 | RYR1 - Multi-minicore disease |
| 2247-V | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2250-N | Cytoplasmic region | None | 9 | RYR1 - Multi-minicore disease |
| 2255-L | Cytoplasmic region | None | 9 | RYR1 - Central core disease |
| 2288-I | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 2303-R | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia, Myopathy, congenital |
| 2307-F | Cytoplasmic region | Arrhythmia (2) | 9 | RYR1 - Central core disease |
| 2308-C | Cytoplasmic region | Prob. Benign (0) | 9 | RYR3 - Schizophrenia |
| 2309-N | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2311-E | Cytoplasmic region | Arrhythmia (2) | 8 | RYR1 - Malignant hyperthermia ? |
| 2312-S | Cytoplasmic region | None | 8 | RYR1 - Malignant hyperthermia |
| 2313-V | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2315-E | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2317-A | Cytoplasmic region | Arrhythmia (2) | 9 | RYR1 - Malignant hyperthermia |
| 2321-V | Cytoplasmic region | Other Cardiac (3) | 9 | RYR1 - Malignant hyperthermia |
| 2322-R | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2326-R | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 2329-E | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2331-F | Cytoplasmic region | Arrhythmia (2) | 9 | RYR1 - Malignant hyperthermia |
| 2332-G | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Centronuclear myopathy |
| 2333-P | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 2334-A | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2338-E | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 2342-G | Cytoplasmic region | Arrhythmia (1) | 9 | RYR1 - Malignant hyperthermia |
| 2370-K | Cytoplasmic region | Prob. Benign (0) | 4 | RYR1 - Malignant hyperthermia |
| 2387-A | Cytoplasmic region | Arrhythmia (8) | 9 | RYR1 - Myopathy, congenital with cores |
| 2389-M | Cytoplasmic region | Prob. Benign (1) | 9 | RYR1 - Multi-minicore disease |
| 2392-Y | Cytoplasmic region | Arrhythmia (2) | 5 | RYR1 - Exertional myalgia and/or rhabdomyolysis |
| 2394-A | Cytoplasmic region | Arrhythmia (2) | 9 | RYR1 - Malignant hyperthermia |
| 2397-D | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2400-G | Cytoplasmic region | Arrhythmia (1) | 9 | RYR1 - Malignant hyperthermia |
| 2401-R | Cytoplasmic region | Arrhythmia (8) | 9 | RYR1 - Central core disease |
| 2403-A | Cytoplasmic region | Arrhythmia (4) | 9 | RYR1 - Malignant hyperthermia |
| 2405-E | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2418-R | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2419-I | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2420-R | Cytoplasmic region | Arrhythmia (3) | 9 | RYR1 - Malignant hyperthermia |
| 2424-R | Cytoplasmic region | None | 5 | RYR1 - Malignant hyperthermia |
| 2462-P | Cytoplasmic region | None | 7 | RYR1 - Malignant hyperthermia |
| 2474-R | Cytoplasmic region | Arrhythmia (8) | 9 | RYR1 - Central core disease |
| 2476-Y | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2495-D | Cytoplasmic region | None | 9 | RYR1 - Nemaline myopathy |
| 2511-D | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Central core disease |
| 2530-R | Cytoplasmic region | None | 9 | RYR1 - Sensory and autonomic neuropathy type I with malig |
| 2536-A | Cytoplasmic region | None | 9 | RYR1 - Muscular dystrophy & congenital myopathy |
| 2553-Y | Cytoplasmic region | None | 9 | RYR1 - Central core disease |
| 2557-K | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2559-C | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2562-T | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2581-R | Cytoplasmic region | None | 9 | RYR1 - Myopathy, progressive, early-onset |
| 2593-V | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 2642-R | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Multi-minicore disease |
| 2664-L | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia ? |
| 2690-E | Cytoplasmic region | None | 8 | RYR1 - Malignant hyperthermia ? |
| 2696-D | Cytoplasmic region | None | 8 | RYR1 - Malignant hyperthermia |
| 2699-G | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 2730-D | Cytoplasmic region | None | 5 | RYR1 - Malignant hyperthermia |
| 2742-I | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia, susceptibility to ? |
| 2751-S | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia ? |
| 2753-V | Cytoplasmic region | None | 9 | RYR1 - Multi-minicore disease |
| 2808-S | Cytoplasmic region | None | 3 | RYR1 - Malignant hyperthermia |
| 2811-S | Cytoplasmic region | None | 2 | RYR1 - Malignant hyperthermia ? |
| 2833-L | Cytoplasmic region | None | 8 | RYR1 - Malignant hyperthermia |
| 2846-E | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2905-R | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital |
| 2929-L | Cytoplasmic region | None | 5 | RYR1 - Myopathy, congenital |
| 2981-Y | Cytoplasmic region | None | 8 | RYR1 - Myopathy, congenital |
| 2986-A | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Myopathy, congenital |
| 3039-T | Cytoplasmic region | None | 7 | RYR1 - Foetal akinesia syndrome |
| 3046-M | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital ? |
| 3069-E | Cytoplasmic region | None | 5 | RYR1 - Malignant hyperthermia |
| 3084-R | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 3103-P | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital |
| 3158-C | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital |
| 3167-P | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital |
| 3182-S | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 3185-N | Cytoplasmic region | None | 9 | RYR1 - Centronuclear myopathy, RYR1-related |
| 3191-E | Cytoplasmic region | None | 8 | RYR1 - Malignant hyperthermia |
| 3203-D | Cytoplasmic region | None | 9 | RYR1 - Axial myopathy, late-onset |
| 3218-I | Cytoplasmic region | None | 6 | RYR1 - Myopathy, congenital |
| 3236-E | Cytoplasmic region | None | 7 | RYR1 - Multi-minicore disease |
| 3249-W | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia ? |
| 3252-H | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Congenital myopathy with central nuclei |
| 3255-E | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 3287-N | Cytoplasmic region | None | 9 | RYR1 - Fibre type disproportion, congenital |
| 3291-D | Cytoplasmic region | None | 9 | RYR1 - Central core disease |
| 3309-K | Cytoplasmic region | None | 8 | RYR1 - Malignant hyperthermia |
| 3327-K | Cytoplasmic region | None | 7 | RYR1 - Multiminicore/minicore/multicore disease |
| 3328-K | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Central core disease |
| 3363-A | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Fibre type disproportion, congenital |
| 3368-A | Cytoplasmic region | None | 9 | RYR1 - Rhabdomyolysis, exercise-induced, Rhabdomyolysis, fever-induced |
| 3371-P | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 3409-S | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital |
| 3413-K | Cytoplasmic region | None | 9 | RYR1 - Axial myopathy, late-onset |
| 3422-Q | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Rhabdomyolysis episodes |
| 3457-D | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia equivocal with halotane |
| 3477-G | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital |
| 3483-P | Cytoplasmic region | None | 9 | RYR1 - Multi-minicore disease |
| 3495-R | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Central core disease |
| 3497-S | Cytoplasmic region | None | 9 | RYR1 - Axial myopathy, late-onset |
| 3538-T | Cytoplasmic region | None | 5 | RYR1 - Muscular dystrophy, progressive axial ? |
| 3539-D | Cytoplasmic region | Prob. Benign (0) | 5 | RYR1 - Malignant hyperthermia |
| 3574-C | Cytoplasmic region | None | 6 | RYR1 - Central core disease |
| 3673-R | Cytoplasmic region | Arrhythmia (1) | 9 | RYR1 - Malignant hyperthermia |
| 3675-A | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 3688-Y | Cytoplasmic region | None | 8 | RYR1 - Central core disease, RYR1-related |
| 3734-R | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia, Myopathy, congenital |
| 3768-G | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 3802-V | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 3815-E | Cytoplasmic region | None | 9 | RYR1 - Muscular dystrophy and arthrogryposis |
| 3859-R | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 3864-N | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 3869-N | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital, RYR1-related |
| 3872-I | Cytoplasmic region | None | 5 | RYR1 - Malignant hyperthermia |
| 3874-T | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital |
| 3889-Y | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 3894-G | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia ? |
| 3925-Q | Cytoplasmic region | Arrhythmia (3) | 9 | RYR1 - Central core disease |
| 3937-H | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital ? |
| 3939-R | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia, Malignant hyperthermia ? |
| 3941-W | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia ? |
| 3942-D | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 3946-G | Cytoplasmic region | Arrhythmia (10) | 9 | RYR1 - Malignant hyperthermia |
| 3966-E | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 3984-S | Cytoplasmic region | None | 9 | RYR1 - Muscular dystrophy & congenital myopathy |
| 3997-K | Cytoplasmic region | Arrhythmia (3) | 9 | RYR1 - Malignant hyperthermia |
| 4006-S | Cytoplasmic region | None | 5 | RYR1 - Malignant hyperthermia |
| 4037-P | Cytoplasmic region | None | 7 | RYR1 - Malignant hyperthermia |
| 4068-S | Cytoplasmic region | None | 9 | RYR1 - Myopathy, centronuclear |
| 4075-N | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 4089-E | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 4092-K | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 4094-I | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 4134-G | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 4135-R | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Myopathy, congenital |
| 4137-E | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Myopathy, congenital |
| 4150-F | Cytoplasmic region | None | 5 | RYR1 - Arthrogryposis multiplex congenita with axoglial d |
| 4166-K | Cytoplasmic region | None | 9 | RYR1 - Multi-minicore disease |
| 4185-K | Cytoplasmic region | None | 5 | RYR1 - Myopathy, congenital |
| 4186-M | Cytoplasmic region | None | 5 | RYR1 - Malignant hyperthermia |
| 4190-V | Cytoplasmic region | None | 5 | RYR1 - Malignant hyperthermia |
| 4233-M | Cytoplasmic region | None | 3 | RYR1 - Exertional heat illness |
| 4234-A | Cytoplasmic region | Prob. Benign (0) | 3 | RYR1 - Malignant hyperthermia |
| 4245-L | Cytoplasmic region | None | 5 | RYR1 - Malignant hyperthermia & exertional rhabdomyolosis |
| 4246-F | Cytoplasmic region | None | 5 | RYR1 - Malignant hyperthermia ? |
| 4280-V | Cytoplasmic region | None | 7 | RYR1 - Myopathy, congenital |
| 4282-A | Transmembrane region | Prob. Benign (1) | 7 | RYR1 - Exertional heat illness |
| 4439-P | Transmembrane region | Prob. Benign (0) | 5 | RYR1 - Malignant hyperthermia ? |
| 4440-E | Transmembrane region | None | 6 | RYR1 - Myopathy, congenital |
| 4443-E | Transmembrane region | Prob. Benign (0) | 6 | RYR1 - Myopathy, progressive axial with cataracts |
| 4497-R | Transmembrane region | Arrhythmia (5) | 9 | RYR1 - Central core disease |
| 4507-L | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4526-S | Transmembrane region | None | 4 | RYR1 - Malignant hyperthermia |
| 4551-S | Transmembrane region | None | 4 | RYR1 - Multi-minicore disease |
| 4557-V | Transmembrane region | None | 8 | RYR1 - Myopathy, congenital |
| 4559-Y | Transmembrane region | None | 8 | RYR1 - Central core disease, Myopathy, congenital |
| 4562-E | Transmembrane region | None | 8 | RYR1 - Central core disease |
| 4563-E | Transmembrane region | None | 8 | RYR1 - Myopathy, congenital |
| 4565-S | Transmembrane region | Other Cardiac (2) | 9 | RYR1 - Core/rod disease, Myopathy, congenital |
| 4566-G | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4568-M | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4571-T | Transmembrane region | Prob. Benign (0) | 9 | RYR1 - Muscular dystrophy |
| 4573-R | Transmembrane region | Prob. Benign (0) | 6 | RYR1 - Malignant hyperthermia |
| 4575-L | Transmembrane region | None | 7 | RYR1 - Central core disease |
| 4578-L | Transmembrane region | None | 5 | RYR1 - Central core disease |
| 4579-H | Transmembrane region | Arrhythmia (1) | 7 | RYR1 - Central core disease |
| 4592-C | Transmembrane region | None | 9 | RYR1 - Malignant hyperthermia |
| 4598-V | Transmembrane region | None | 9 | RYR3 - Colorectal cancer |
| 4612-F | Transmembrane region | None | 9 | RYR1 - Malignant hyperthermia |
| 4637-T | Transmembrane region | None | 9 | RYR1 - Myopathy, congenital |
| 4652-K | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4657-Y | Transmembrane region | None | 9 | RYR1 - Malignant hyperthermia |
| 4661-Y | Transmembrane region | None | 9 | RYR1 - Malignant hyperthermia |
| 4662-G | Transmembrane region | Arrhythmia (2) | 9 | RYR1 - Malignant hyperthermia |
| 4663-R | Transmembrane region | None | 9 | RYR1 - Malignant hyperthermia |
| 4665-R | Transmembrane region | None | 9 | RYR1 - Malignant hyperthermia |
| 4671-G | Transmembrane region | Arrhythmia (6) | 9 | RYR1 - Multiminicore/minicore/multicore disease |
| 4711-G | Transmembrane region | None | 9 | RYR1 - Congenital myopathy & foetal akinesia |
| 4722-L | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4725-Y | Transmembrane region | Arrhythmia (1) | 9 | RYR1 - Central core disease |
| 4733-H | Transmembrane region | None | 9 | RYR1 - Multi-minicore disease |
| 4735-N | Transmembrane region | None | 9 | RYR1 - Myopathy, congenital |
| 4737-F | Transmembrane region | None | 9 | RYR1 - Central core disease, Myopathy, congenital |
| 4738-F | Transmembrane region | None | 9 | RYR1 - Congenital myopathy |
| 4740-A | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4742-H | Transmembrane region | Other Cardiac (2) | 9 | RYR1 - Myopathy, congenital |
| 4743-L | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4745-D | Transmembrane region | None | 9 | RYR1 - Myopathy, RYR1-associated |
| 4746-I | Transmembrane region | None | 9 | RYR1 - Malignant hyperthermia |
| 4749-G | Transmembrane region | None | 9 | RYR1 - Malignant hyperthermia |
| 4752-T | Transmembrane region | None | 9 | RYR1 - Myopathy, congenital |
| 4753-L | Transmembrane region | None | 9 | RYR1 - Malignant hyperthermia |
| 4754-R | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4755-T | Transmembrane region | None | 9 | RYR1 - Malignant hyperthermia |
| 4762-H | Transmembrane region | Arrhythmia (2) | 9 | RYR1 - Malignant hyperthermia |
| 4767-L | Transmembrane region | None | 9 | RYR1 - Malignant hyperthermia |
| 4771-V | Transmembrane region | Arrhythmia (6) | 9 | RYR1 - Myopathy, congenital with cores |
| 4775-A | Transmembrane region | None | 9 | RYR1 - Myotonic dystrophy, type 1 |
| 4776-V | Transmembrane region | None | 9 | RYR1 - Malignant hyperthermia ? |
| 4778-V | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4779-Y | Transmembrane region | None | 9 | RYR1 - Myopathy, RYR1-associated |
| 4782-T | Transmembrane region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 4785-A | Transmembrane region | None | 9 | RYR1 - Malignant hyperthermia |
| 4787-N | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4789-F | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4790-R | Transmembrane region | Arrhythmia (3) | 9 | RYR1 - Central core disease |
| 4791-K | Transmembrane region | None | 9 | RYR1 - Central core disease, RYR1-related |
| 4793-Y | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4796-S | Transmembrane region | None | 9 | RYR1 - Multi-minicore disease |
| 4799-G | Transmembrane region | None | 9 | RYR3 - Epileptic encephalopathy |
| 4805-K | Transmembrane region | Arrhythmia (3) | 9 | RYR1 - Malignant hyperthermia |
| 4809-M | Transmembrane region | None | 9 | RYR1 - Malignant hyperthermia |
| 4810-L | Transmembrane region | None | 9 | RYR1 - Myopathy, congenital |
| 4811-T | Transmembrane region | None | 9 | RYR1 - Core rod myopathy |
| 4815-F | Transmembrane region | None | 9 | RYR1 - Myopathy, congenital |
| 4816-H | Transmembrane region | None | 9 | RYR1 - Multi-minicore disease |
| 4820-G | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4822-R | Transmembrane region | Arrhythmia (3) | 9 | RYR1 - Central core disease |
| 4823-A | Transmembrane region | None | 9 | RYR1 - Central core disease, Malignant hyperthermia, Myopathy, congenital (CNMDU1) |
| 4826-G | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4827-I | Transmembrane region | None | 9 | RYR1 - Central core disease RYR3 - Schizophrenia |
| 4828-G | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4835-A | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4836-G | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4837-D | Transmembrane region | None | 9 | RYR1 - Multi-minicore disease |
| 4840-E | Transmembrane region | None | 9 | RYR1 - Myopathy, congenital |
| 4843-R | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4846-F | Transmembrane region | None | 9 | RYR1 - Myopathy, congenital |
| 4847-D | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4849-T | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4850-F | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4856-V | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4864-G | Transmembrane region | None | 9 | RYR1 - Malignant hyperthermia |
| 4865-L | Transmembrane region | Arrhythmia (1) | 9 | RYR1 - Central core disease |
| 4867-I | Transmembrane region | Arrhythmia (4) | 9 | RYR1 - Central core disease, Malignant hyperthermia |
| 4868-D | Transmembrane region | None | 9 | RYR1 - Malignant hyperthermia |
| 4869-A | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4870-F | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4871-G | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 4889-F | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 4902-P | Cytoplasmic region | Arrhythmia (6) | 9 | RYR1 - Malignant hyperthermia |
| 4905-F | Cytoplasmic region | Arrhythmia (1) | 9 | RYR1 - Myopathy, congenital |
| 4909-T | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital |
| 4949-W | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |