No paralogue variants have been mapped to residue 3799 for RYR2.
RYR2 | GNSTVQQKMLDYLKEKKDVGFFQSLAGLMQ>S<CSVLDLNAFERQNKAEGLGMVTEEGS---- | 3825 |
RYR1 | GNAEVQQKMLDYLKDKKEVGFFQSIQALMQ>T<CSVLDLNAFERQNKAEGLGMVNEDGTVINR | 3867 |
RYR3 | GNAGVQQKMLDYLKEKKDAGFFQSLSGLMQ>S<CSVLDLNAFERQNKAEGLGMVTEEGTLIVR | 3719 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S3799P | c.11395T>C | 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 |