No paralogue variants have been mapped to residue 4851 for RYR2.
RYR2 | VRAGGGIGDEIEDPAGDEYEIYRIIFDITF>F<FFVIVILLAIIQGLIIDAFGELRDQQEQVK | 4881 |
RYR1 | VRAGGGIGDEIEDPAGDEYELYRVVFDITF>F<FFVIVILLAIIQGLIIDAFGELRDQQEQVK | 4952 |
RYR3 | VRAGGGIGDEIEDPAGDPYEMYRIVFDITF>F<FFVIVILLAIIQGLIIDAFGELRDQQEQVR | 4784 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F4851C | c.14552T>G | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: benign | |
Reports | Inherited Arrhythmia | CPVT | Human cardiac ryanodine receptor mutations in ion channel disorders in Japan. Int J Cardiol. 2007 116(2):263-5. 16843546 | ||
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.F4851L | c.14553C>A | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: benign | |
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 |