No paralogue variants have been mapped to residue 616 for RYR2.
RYR2 | LNIIKEGHIKSIISLLDKHGRNHKVLDVLC>S<LCVCHGVAVRSNQHLICDNLLPGRDLLLQT | 646 |
RYR1 | LNIIQENHIKSIISLLDKHGRNHKVLDVLC>S<LCVCNGVAVRSNQDLITENLLPGRELLLQT | 634 |
RYR3 | LNLIAEGHIKSIISLLDKHGRNHKVLDILC>S<LCLCNGVAVRANQNLICDNLLPRRNLLLQT | 633 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S616L | c.1847C>T | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia. BMC Med Genet. 2009 10:12. 19216760 | ||
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 |