No paralogue variants have been mapped to residue 2246 for RYR2.
| RYR2 | DHLSYLLENSSVGLASPAMRGSTPLDVAAA>S<VMDNNELALALREPDLEKVVRYLAGCGLQS | 2276 |
| RYR1 | DHLSYLLENSGIG--L-GMQGSTPLDVAAA>S<VIDNNELALALQEQDLEKVVSYLAGCGLQS | 2309 |
| RYR3 | EHLSYLLENSSVGLASPSMRGSTPLDVAAS>S<VMDNNELALSLEEPDLEKVVTYLAGCGLQS | 2173 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S2246L | c.6737C>T | Inherited Arrhythmia | CPVT | rs121918597 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | CPVT | Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation. 2001 103(2):196-200. 11208676 | ||
| Inherited Arrhythmia | CPVT | FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death. Cell. 2003 113(7):829-40. 12837242 | |||
| Inherited Arrhythmia | CPVT | Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death. Circ Res. 2005 97(11):1173-81. 16239587 | |||
| Inherited Arrhythmia | CPVT | FKBP12.6 binding of ryanodine receptors carrying mutations associated with arrhythmogenic cardiac disease. Biochem J. 2009 419(2):273-8. 19226252 | |||
| Inherited Arrhythmia | CPVT | Mutation-linked defective interdomain interactions within ryanodine receptor cause aberrant Ca²⁺release leading to catecholaminergic polymorphic ventricular tachycardia. Circulation. 2011 124(6):682-94. 21768539 | |||
| Inherited Arrhythmia | CPVT | The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 54(22):2065-74. 19926015 | |||
| 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 | |||
| Unknown | Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002 106(1):69-74. 12093772 | ||||
| Other Cardiac Phenotype | Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young. Circ Cardiovasc Genet. 2016 9(3):259-65. doi: 10.1161/CIRCGENETICS.115.001370. 27114410 | ||||