No paralogue variants have been mapped to residue 240 for RYR2.
| RYR2 | TLWSVAPISSGSEAAQGYLIGGDVLRLLHG>H<MDECLTVPSGEHGEEQRRTVHYEGGAVSVH | 270 |
| RYR1 | TLWNMNPICSR--CEEGFVTGGHVLRLFHG>H<MDECLTISPAD-SDDQRRLVYYEGGAVCTH | 254 |
| RYR3 | TLWNVHPTCSGSSIEEGYLLGGHVVRLFHG>H<-DECLTIPSTDQNDSQHRRIFYEAGGAGTR | 259 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.H240R | c.719A>G | Inherited Arrhythmia | CPVT | rs369512347 | SIFT: deleterious Polyphen: benign |
| Reports | 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 | 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 | |||
| 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 | ||||
| p.His240Pro | c.719A>C | Unknown | SIFT: Polyphen: | ||