| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| RYR1 | R156K | Malignant hyperthermia | High | 9 | 16835904 |
| RYR1 | R156W | Central core disease | High | 9 | 23919265 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR2.
| RYR2 | STDKLAFDVGLQEDTTGEACWWTIHPASKQ>R<SEGEKVRVGDDLILVSVSSERYLHLSYGNG | 199 |
| RYR1 | MTDKLAFDVGLQEDATGEACWWTMHPASKQ>R<SEGEKVRVGDDIILVSVSSERYLHLSTASG | 186 |
| RYR3 | QTDKLAFDVGLREHATGEACWWTIHPASKQ>R<SEGEKVRIGDDLILVSVSSERYLHLSVSNG | 189 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R169Q | c.506G>A | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Inherited Arrhythmia | CPVT | A novel mutation (Arg169Gln) of the cardiac ryanodine receptor gene causing exercise-induced bidirectional ventricular tachycardia. Int J Cardiol. 2006 108(2):276-8. 16517285 | ||
| Inherited Arrhythmia | CPVT | Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086 | |||
| Inherited Arrhythmia | CPVT | Type 2 ryanodine receptor domain A contains a unique and dynamic α-helix that transitions to a β-strand in a mutant linked with a heritable cardiomyopathy. J Mol Biol. 2013 425(21):4034-46. doi: 10.1016/j.jmb.2013.08.015. 23978697 | |||
| Inherited Arrhythmia | CPVT | New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405 | |||
| Unknown | Crystal structures of the N-terminal domains of cardiac and skeletal muscle ryanodine receptors: insights into disease mutations. Structure. 2009 17(11):1505-14. 19913485 | ||||
| p.R169L | c.506G>T | Inherited Arrhythmia | CPVT | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | CPVT | Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. PLoS One. 2015 10(6):e0131517. doi: 10.1371/journal.pone.0131517. 26114861 | ||