| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| RYR1 | G3990V | Malignant hyperthermia | High | 9 | 16917943, 19648156, 25525159 |
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 | VFNTLTEYIQGPCTGNQQSLAHSRLWDAVV>G<FLHVFAHMQMKLSQDSSQIELLKELMDLQK | 3976 |
| RYR1 | VFNSLTEYIQGPCTGNQQSLAHSRLWDAVV>G<FLHVFAHMMMKLAQDSSQIELLKELLDLQK | 4020 |
| RYR3 | IFNSLTEYIQGPCIGNQQSLAHSRLWDAVV>G<FLHVFANMQMKLSQDSSQIELLKELLDLLQ | 3872 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G3946A | c.11837G>C | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: probably damaging | |
| Reports | Inherited Arrhythmia | CPVT | Heart Rhythm 2006. Abstracts of the 27th Annual Meeting of the Heart Rhythm Society, Boston, Massachusetts, USA, May 17-20, 2006. Heart Rhythm. 2006 3(1 Suppl):S1-343. 16688893 | ||
| 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 | |||
| Inherited Arrhythmia | CPVT | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159 | |||
| p.G3946S | c.11836G>A | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Inherited Arrhythmia | CPVT | Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002 106(1):69-74. 12093772 | ||
| Inherited Arrhythmia | CPVT | Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086 | |||
| 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 | |||
| Inherited Arrhythmia | CPVT | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159 | |||
| p.G3946D | c.11837G>A | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Inherited Arrhythmia | CPVT | Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation. 2009 119(18):2426-34. 19398665 | ||
| 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 | |||
| Inherited Arrhythmia | CPVT | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159 | |||