No paralogue variants have been mapped to residue 1810 for RYR2.
RYR2 | PEFPLDILKSKTIQMLTEAVKEGSLHARDP>V<GGTTEFLFVPLIKLFYTLLIMGIFHNEDLK | 1840 |
RYR1 | PAIPLEALRDKALRMLGEAVRDGGQHARDP>V<GGSVEFQFVPVLKLVSTLLVMGIFGDEDVK | 1860 |
RYR3 | PEIPLESLRTKALSMLTEAVQCSGAHIRDP>V<GGSVEFQFVPVLKLIGTLLVMGVFDDDDVR | 1744 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1810L | c.5428G>C | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: possibly 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 | |||
Inherited Arrhythmia | CPVT | RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort. PLoS One. 2014 9(6):e101059. doi: 10.1371/journal.pone.0101059. e 24978818 |