RYR1 Paralogue Annotation

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.

ResidueDomainKnown Variant Status ConsensusMapped Paralogues and Variant Disease
28-L None9 RYR2 - Ventricular tachycardia, polymorphic
61-L Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
72-L None9 RYR2 - Sudden cardiac death
76-A None9 RYR2 - Arrhythmogenic right ventricular dysplasia type 2
80-M None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
151-P None9 RYR2 - Ventricular tachycardia, polymorphic
152-A None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
153-S None9 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 None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
313-F None8 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 None9 RYR2 - Long QT syndrome
390-T None8 RYR2 - Catecholaminergic polymorphic ventricular tachycar
391-R Prob. Benign (0)8 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Long QT syndrome
397-S None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
398-Q None9 RYR2 - Ventricular tachycardia, polymorphic
399-A None9 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 None5 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 None9 RYR2 - Cardiac arrhythmia
604-S None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
727-R Prob. Benign (0)8 RYR2 - Catecholaminergic polymorphic ventricular tachycar
889-G None9 RYR2 - Colorectal cancer
917-R None9 RYR2 - Cardiomyopathy, hypertrophic
1001-G Prob. Benign (0)7 RYR2 - Catecholaminergic polymorphic ventricular tachycar
1039-C None7 RYR2 - Catecholaminergic polymorphic ventricular tachycar
1093-A None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
1113-E None9 RYR2 - Cardiomyopathy, hypertrophic
1122-V None8 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 None8 RYR2 - Sudden unexpected death in epilepsy
1526-M Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
1559-N None8 RYR2 - Catecholaminergic polymorphic ventricular tachycar
1573-P Myopathy (1)9 RYR2 - Arrhythmogenic right ventricular dysplasia/cardiom
1589-Q None9 RYR2 - Sudden unexplained death
1591-P None9 RYR2 - Arrhythmogenic right ventricular dysplasia/cardiom
1694-L None9 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 None5 RYR2 - Catecholaminergic polymorphic ventricular tachycar
1902-E Prob. Benign (0)2 RYR2 - Sudden unexpected death in infancy
1918-K None3 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 None9 RYR2 - Colorectal cancer
2204-H Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2214-V Myopathy (2)9 RYR2 - Sudden cardiac death
2228-M None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2248-R Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2249-S None7 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 None5 RYR2 - Long QT syndrome
2279-S None8 RYR2 - Ventricular tachycardia, polymorphic
2287-A Prob. Benign (0)9 RYR2 - Ventricular tachycardia, polymorphic
2300-S None9 RYR2 - Sudden infant death syndrome
2329-E None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2339-V None9 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 None9 RYR2 - Ventricular tachycardia, polymorphic
2364-F Myopathy (1)9 RYR2 - Ventricular tachycardia, polymorphic
2370-G None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2375-G Myopathy (2)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2392-R None6 RYR2 - Ventricular tachycardia, polymorphic
2401-R Prob. Benign (0)4 RYR2 - Arrhythmogenic right ventricular dysplasia/cardiom
2420-H None9 RYR2 - Arrhythmogenic right ventricular dysplasia type 2
2421-A Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic
2424-S None9 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 None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2437-A Myopathy (1)9 RYR2 - Ventricular tachycardia, polymorphic
2438-P None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2454-R Myopathy (5)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2473-P None9 RYR2 - Cardiomyopathy, right ventricular
2508-R Myopathy (12)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic
2509-V None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2517-F None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2532-A None9 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 None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2639-M None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2641-L Prob. Benign (0)9 RYR2 - Cardiac arrhythmia
2662-A None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2755-I None9 RYR2 - Sudden cardiac death
2858-Q None7 RYR2 - Long QT syndrome
2966-W None5 RYR2 - Arrhythmogenic right ventricular dysplasia/cardiom
2993-Q None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
3254-G None7 RYR2 - Arrhythmogenic right ventricular dysplasia/cardiom
3343-Q None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
3602-V None6 RYR2 - Sudden cardiac death
3614-K None9 RYR2 - Sudden unexpected death in infancy
3671-D None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
3707-R Myopathy (1)9 RYR2 - Long QT syndrome
3816-L None7 RYR2 - Ventricular tachycardia, polymorphic
3837-T None7 RYR2 - Catecholaminergic polymorphic ventricular tachycar
3838-C None9 RYR2 - Ventricular tachycardia, polymorphic
3847-E Prob. Benign (0)9 RYR2 - Cardiomyopathy, hypertrophic
3905-Q None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
3920-D None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
3923-L None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
3969-Q Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
3982-S None9 RYR2 - Ventricular tachycardia, polymorphic
3987-A None9 RYR2 - Sudden unexplained death
3990-G Myopathy (3)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic
4003-A None7 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4016-L None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4017-D None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4018-L None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4021-D None9 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 None5 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4085-G None9 RYR2 - Long QT syndrome
4120-E None9 RYR2 - Ventricular tachycardia, polymorphic
4135-A None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4141-N None9 RYR2 - Ventricular tachycardia, polymorphic
4148-N None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic
4149-L None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4152-H None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4153-V None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4159-L None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4168-S None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic
4183-M None9 RYR2 - Sudden unexplained death
4188-R Prob. Benign (0)5 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Sudden cardiac death
4190-E None5 RYR2 - Long QT syndrome, Ventricular tachycardia, polymorphic
4193-Y None5 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4197-S None7 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4199-T None7 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4201-R None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4202-A None9 RYR2 - Ventricular tachycardia, polymorphic
4203-Q Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4222-N None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4231-E None5 RYR2 - Ventricular tachycardia, polymorphic
4232-L None5 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4237-C None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4240-T Prob. Benign (0)9 RYR2 - Ventricular tachycardia, polymorphic
4245-Q None9 RYR2 - Ventricular tachycardia, polymorphic
4248-A None9 RYR2 - Ventricular fibrillation, recurrent
4347-G None7 RYR2 - Long QT syndrome
4411-G None3 RYR2 - Cardiac arrhythmia
4447-R None3 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4493-P Prob. Benign (0)6 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4532-P None4 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 None9 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 None5 RYR2 - Sudden unexplained death
4628-M None7 RYR2 - Ventricular tachycardia, polymorphic
4630-Y None8 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 None9 RYR2 - Long QT syndrome, Ventricular fibrillation, idiopathic
4670-V None9 RYR3 - Colorectal cancer
4672-F Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4679-A None9 RYR2 - Ventricular tachycardia, polymorphic
4680-R None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Sudden unexplained death
4683-E None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4703-D None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4717-W Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4722-K None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4725-V None9 RYR2 - Ventricular tachycardia, polymorphic
4734-G Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4742-L None9 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 None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4813-H Myopathy (1)9 RYR2 - Sudden cardiac death
4822-K None9 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 None9 RYR3 - Epileptic encephalopathy
4876-K Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4892-V None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4893-R Myopathy (12)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4898-I Myopathy (13)9 RYR3 - Schizophrenia
4919-I None9 RYR2 - Ventricular tachycardia, polymorphic
4922-F None9 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 None9 RYR2 - Ventricular tachycardia, polymorphic
4966-S None9 RYR2 - Ventricular tachycardia, polymorphic
4973-P Myopathy (4)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic
4975-G None9 RYR2 - Cardiac arrest
4976-F Myopathy (3)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4990-M None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
5006-G None9 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 None9 RYR2 - Intellectual disability
5030-R Prob. Benign (0)9 RYR2 - Ventricular tachycardia, polymorphic
5033-Y Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar