No paralogue variants have been mapped to residue 4091 for RYR2.
| RYR2 | SETEFLLSCAETDENETLDYEEFVKRFHEP>A<KDIGFNVAVLLTNLSEHMPNDTRLQTFLEL | 4121 |
| RYR1 | PEIQFLLSCSEADENEMINCEEFANRFQEP>A<RDIGFNVAVLLTNLSEHVPHDPRLHNFLEL | 4165 |
| RYR3 | SEIDFLLSCAEADENDMFNYVDFVDRFHEP>A<KDIGFNVAVLLTNLSEHMPNDSRLKCLLDP | 4017 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A4091V | c.12272C>T | 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 | |||
| p.A4091T | c.12271G>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 | Complex atrial arrhythmias as first manifestation of catecholaminergic polymorphic ventricular tachycardia: an unusual course in a patient with a new mutation in ryanodine receptor type 2 gene. Cardiol Young. 2014 24(4):741-4. doi: 10.1017/S1047951113001091. 23985380 | |||