No paralogue variants have been mapped to residue 4670 for RYR2.
RYR2 | FPNNYWDKFVKRKVMDKYGEFYGRDRISEL>L<GMDKAALDFSDAREKKKPKKDSSLSAVLNS | 4700 |
RYR1 | FPSNYWDKFVKRKVLDKHGDIYGRERIAEL>L<GMDLATLEITAHNER-KPNPPPGLLTWLMS | 4771 |
RYR3 | FPNNYWDKFVKRKVINKYGDLYGAERIAEL>L<GLDKNALDFSPVEET-KA-EAASLVSWLSS | 4603 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L4670H | c.14009T>A | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Catecholaminergic polymorphic ventricular tachycardia in a patient with recurrent exertional syncope. Korean Circ J. 2012 42(2):129-32. 22396703 | ||
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.L4670V | c.14008C>G | Cardiomyopathy | SIFT: Polyphen: | ||
Reports | Cardiomyopathy | ARVD/C | Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening. Heart Rhythm. 2014 11(11):1999-2009. doi: 10.1016/j.hrthm.2014.07.020 25041964 |