No paralogue variants have been mapped to residue 406 for RYR2.
RYR2 | SVDVKSVRMGSIQRKAIMHHEGHMDDGISL>S<RSQHEESRTARVIRSTVFLFNRFIRGLDAL | 436 |
RYR1 | APDPKALRLGVLKKKAMLHQEGHMDDALSL>T<RCQQEESQAARMIHSTNGLYNQFIKSLDSF | 420 |
RYR3 | AQDAKTSRLGPLKRKVILHQEGHMDDGLTL>Q<RCQREESQAARIIRNTTALFSQFVSGN--- | 425 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S406L | c.1217C>T | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: possibly damaging | |
Reports | Inherited Arrhythmia | CPVT | Dantrolene rescues arrhythmogenic RYR2 defect in a patient-specific stem cell model of catecholaminergic polymorphic ventricular tachycardia. EMBO Mol Med. 2012 4(3):180-91. doi: 10.1002/emmm.201100194. 22174035 | ||
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 | Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes. Genet Med. 2015 17(12):1007-11. doi: 10.1038/gim.2015.26. 25856671 |