This page details the annotation of RYR1 with disease causing variants in the following paralogues: RYR2, RYR3. Click here to see the multiple sequence alignment of RYR1 with all paralogues.
The paralogue variant mappings to RYR1 are based on the the transcript ENST00000359596 and protein ENSP00000352608 (5038 amino acids) for the Ensembl gene ENSG00000196218.
Amino acid residues of RYR1 with mapped disease-causing missense variants from paralogues are shown below, along with details about the RYR1 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 RYR1 variants and the mapped paralogue variants.
Residue | Domain | Known Variant Status | Consensus | Mapped Paralogues and Variant Disease |
---|---|---|---|---|
28-L | None | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
61-L | Prob. Benign (0) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
72-L | None | 9 | RYR2 - Sudden cardiac death | |
76-A | None | 9 | RYR2 - Arrhythmogenic right ventricular dysplasia type 2 | |
80-M | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
151-P | None | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
152-A | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
153-S | None | 9 | RYR2 - Long QT syndrome | |
156-R | Myopathy (2) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic | |
163-R | Myopathy (19) | 9 | RYR2 - Arrhythmogenic right ventricular dysplasia type 2 | |
165-G | Myopathy (1) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
173-V | Prob. Benign (0) | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
176-E | Prob. Benign (0) | 7 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
204-I | Prob. Benign (0) | 8 | RYR2 - Long QT syndrome | |
215-G | Myopathy (4) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
225-H | Prob. Benign (0) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
227-D | Myopathy (1) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
228-E | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
313-F | None | 8 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
316-R | Myopathy (1) | 8 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
341-G | Myopathy (14) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
384-D | None | 9 | RYR2 - Long QT syndrome | |
390-T | None | 8 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
391-R | Prob. Benign (0) | 8 | RYR2 - Catecholaminergic polymorphic ventricular tachycar, Long QT syndrome | |
397-S | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
398-Q | None | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
399-A | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
403-I | Myopathy (6) | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
404-H | Prob. Benign (0) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic | |
417-L | Myopathy (1) | 5 | RYR2 - Arrhythmogenic right ventricular dysplasia type 2 | |
454-P | None | 5 | RYR2 - Ventricular tachycardia, polymorphic | |
473-R | Prob. Benign (0) | 9 | RYR2 - Cardiomyopathy, hypertrophic | |
535-N | Benign (0) | 9 | RYR2 - Sudden cardiac death | |
537-A | Myopathy (1) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
543-L | None | 9 | RYR2 - Cardiac arrhythmia | |
604-S | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
727-R | Prob. Benign (0) | 8 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
889-G | None | 9 | RYR2 - Colorectal cancer | |
917-R | None | 9 | RYR2 - Cardiomyopathy, hypertrophic | |
1001-G | Prob. Benign (0) | 7 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
1039-C | None | 7 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
1093-A | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
1113-E | None | 9 | RYR2 - Cardiomyopathy, hypertrophic | |
1122-V | None | 8 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
1209-S | Prob. Benign (0) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
1242-P | Prob. Benign (0) | 5 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
1254-Y | Prob. Benign (0) | 8 | RYR2 - Brugada syndrome | |
1272-T | Prob. Benign (0) | 9 | RYR3 - Hyperinsulinism | |
1495-W | None | 8 | RYR2 - Sudden unexpected death in epilepsy | |
1526-M | Prob. Benign (0) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
1559-N | None | 8 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
1573-P | Myopathy (1) | 9 | RYR2 - Arrhythmogenic right ventricular dysplasia/cardiom | |
1589-Q | None | 9 | RYR2 - Sudden unexplained death | |
1591-P | None | 9 | RYR2 - Arrhythmogenic right ventricular dysplasia/cardiom | |
1694-L | None | 9 | RYR2 - Brugada syndrome | |
1732-E | Myopathy (1) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
1774-P | Prob. Benign (0) | 9 | RYR2 - Long QT syndrome | |
1779-P | Prob. Benign (0) | 7 | RYR2 - Sudden cardiac death | |
1830-V | Prob. Benign (0) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
1857-E | None | 5 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
1902-E | Prob. Benign (0) | 2 | RYR2 - Sudden unexpected death in infancy | |
1918-K | None | 3 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2081-E | Prob. Benign (0) | 4 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2111-V | Prob. Benign (0) | 9 | RYR2 - Ventricular fibrillation, idiopathic | |
2149-V | Prob. Benign (0) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2163-R | Myopathy (12) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2189-K | None | 9 | RYR2 - Colorectal cancer | |
2204-H | Myopathy (1) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2214-V | Myopathy (2) | 9 | RYR2 - Sudden cardiac death | |
2228-M | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2248-R | Myopathy (1) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2249-S | None | 7 | RYR2 - Arrhythmogenic right ventricular dysplasia/cardiom | |
2252-D | Prob. Benign (0) | 5 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2253-H | Myopathy (1) | 7 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2264-G | None | 5 | RYR2 - Long QT syndrome | |
2279-S | None | 8 | RYR2 - Ventricular tachycardia, polymorphic | |
2287-A | Prob. Benign (0) | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
2300-S | None | 9 | RYR2 - Sudden infant death syndrome | |
2329-E | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2339-V | None | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
2340-F | Myopathy (1) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2341-V | Prob. Benign (0) | 9 | RYR3 - Schizophrenia | |
2344-E | Myopathy (1) | 8 | RYR2 - Ventricular tachycardia, polymorphic | |
2350-A | Myopathy (4) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2354-V | Myopathy (1) | 9 | RYR2 - Sudden unexplained death | |
2361-P | None | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
2364-F | Myopathy (1) | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
2370-G | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2375-G | Myopathy (2) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2392-R | None | 6 | RYR2 - Ventricular tachycardia, polymorphic | |
2401-R | Prob. Benign (0) | 4 | RYR2 - Arrhythmogenic right ventricular dysplasia/cardiom | |
2420-H | None | 9 | RYR2 - Arrhythmogenic right ventricular dysplasia type 2 | |
2421-A | Myopathy (1) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic | |
2424-S | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2426-Y | Other Disease (2) | 5 | RYR2 - Ventricular tachycardia, polymorphic | |
2428-A | Myopathy (1) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2434-G | Myopathy (7) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2435-R | Myopathy (11) | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
2436-C | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2437-A | Myopathy (1) | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
2438-P | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2454-R | Myopathy (5) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2473-P | None | 9 | RYR2 - Cardiomyopathy, right ventricular | |
2508-R | Myopathy (12) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic | |
2509-V | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2517-F | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2532-A | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2538-T | Prob. Benign (0) | 9 | RYR2 - Arrhythmogenic right ventricular dysplasia type 2 | |
2544-T | Prob. Benign (0) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2567-P | Prob. Benign (0) | 9 | RYR2 - Brugada syndrome | |
2568-L | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2639-M | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2641-L | Prob. Benign (0) | 9 | RYR2 - Cardiac arrhythmia | |
2662-A | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
2755-I | None | 9 | RYR2 - Sudden cardiac death | |
2858-Q | None | 7 | RYR2 - Long QT syndrome | |
2966-W | None | 5 | RYR2 - Arrhythmogenic right ventricular dysplasia/cardiom | |
2993-Q | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
3254-G | None | 7 | RYR2 - Arrhythmogenic right ventricular dysplasia/cardiom | |
3343-Q | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
3602-V | None | 6 | RYR2 - Sudden cardiac death | |
3614-K | None | 9 | RYR2 - Sudden unexpected death in infancy | |
3671-D | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
3707-R | Myopathy (1) | 9 | RYR2 - Long QT syndrome | |
3816-L | None | 7 | RYR2 - Ventricular tachycardia, polymorphic | |
3837-T | None | 7 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
3838-C | None | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
3847-E | Prob. Benign (0) | 9 | RYR2 - Cardiomyopathy, hypertrophic | |
3905-Q | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
3920-D | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
3923-L | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
3969-Q | Myopathy (1) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
3982-S | None | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
3987-A | None | 9 | RYR2 - Sudden unexplained death | |
3990-G | Myopathy (3) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic | |
4003-A | None | 7 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4016-L | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4017-D | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4018-L | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4021-D | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4022-M | Prob. Benign (0) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4034-V | Prob. Benign (0) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4041-R | Myopathy (3) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4046-M | Prob. Benign (0) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4064-F | None | 5 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4085-G | None | 9 | RYR2 - Long QT syndrome | |
4120-E | None | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
4135-A | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4141-N | None | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
4148-N | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic | |
4149-L | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4152-H | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4153-V | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4159-L | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4168-S | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic | |
4183-M | None | 9 | RYR2 - Sudden unexplained death | |
4188-R | Prob. Benign (0) | 5 | RYR2 - Catecholaminergic polymorphic ventricular tachycar, Sudden cardiac death | |
4190-E | None | 5 | RYR2 - Long QT syndrome, Ventricular tachycardia, polymorphic | |
4193-Y | None | 5 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4197-S | None | 7 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4199-T | None | 7 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4201-R | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4202-A | None | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
4203-Q | Prob. Benign (0) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4222-N | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4231-E | None | 5 | RYR2 - Ventricular tachycardia, polymorphic | |
4232-L | None | 5 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4237-C | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4240-T | Prob. Benign (0) | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
4245-Q | None | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
4248-A | None | 9 | RYR2 - Ventricular fibrillation, recurrent | |
4347-G | None | 7 | RYR2 - Long QT syndrome | |
4411-G | None | 3 | RYR2 - Cardiac arrhythmia | |
4447-R | None | 3 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4493-P | Prob. Benign (0) | 6 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4532-P | None | 4 | RYR2 - Sudden unexplained death | |
4549-R | Prob. Benign (0) | 8 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4558-R | Myopathy (4) | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
4560-F | None | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
4565-F | Prob. Benign (0) | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
4571-A | Prob. Benign (0) | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
4624-E | None | 5 | RYR2 - Sudden unexplained death | |
4628-M | None | 7 | RYR2 - Ventricular tachycardia, polymorphic | |
4630-Y | None | 8 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4637-T | Myopathy (3) | 9 | RYR2 - Sudden infant death syndrome | |
4651-H | Myopathy (2) | 7 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4659-I | Prob. Benign (0) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4666-K | None | 9 | RYR2 - Long QT syndrome, Ventricular fibrillation, idiopathic | |
4670-V | None | 9 | RYR3 - Colorectal cancer | |
4672-F | Prob. Benign (0) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4679-A | None | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
4680-R | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar, Sudden unexplained death | |
4683-E | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4703-D | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4717-W | Prob. Benign (0) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4722-K | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4725-V | None | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
4734-G | Myopathy (1) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4742-L | None | 9 | RYR2 - Arrhythmogenic right ventricular dysplasia/cardiom, Catecholaminergic polymorphic ventricular tachycar | |
4743-G | Myopathy (1) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic | |
4796-Y | Myopathy (1) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4812-A | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4813-H | Myopathy (1) | 9 | RYR2 - Sudden cardiac death | |
4822-K | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4833-H | Myopathy (4) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4842-V | Myopathy (3) | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
4861-R | Myopathy (9) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4870-E | None | 9 | RYR3 - Epileptic encephalopathy | |
4876-K | Myopathy (1) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4892-V | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4893-R | Myopathy (12) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4898-I | Myopathy (13) | 9 | RYR3 - Schizophrenia | |
4919-I | None | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
4922-F | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic | |
4931-A | Prob. Benign (0) | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
4936-L | Myopathy (1) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4938-I | Myopathy (3) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic | |
4951-V | None | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
4966-S | None | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
4973-P | Myopathy (4) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic | |
4975-G | None | 9 | RYR2 - Cardiac arrest | |
4976-F | Myopathy (3) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
4990-M | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
5006-G | None | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
5007-Q | Prob. Benign (0) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar | |
5021-D | Prob. Benign (0) | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
5026-G | None | 9 | RYR2 - Intellectual disability | |
5030-R | Prob. Benign (0) | 9 | RYR2 - Ventricular tachycardia, polymorphic | |
5033-Y | Prob. Benign (0) | 9 | RYR2 - Catecholaminergic polymorphic ventricular tachycar |