No paralogue variants have been mapped to residue 2306 for RYR2.
RYR2 | SCQMLVSKGYPDIGWNPVEGERYLDFLRFA>V<FCNGESVEENANVVVRLLIRRPECFGPALR | 2336 |
RYR1 | SCPMLVAKGYPDIGWNPCGGERYLDFLRFA>V<FVNGESVEENANVVVRLLIRKPECFGPALR | 2369 |
RYR3 | SCPMLLAKGYPDVGWNPIEGERYLSFLRFA>V<FVNSESVEENASVVVKLLIRRPECFGPALR | 2233 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V2306I | c.6916G>A | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms. Eur J Hum Genet. 2003 11(11):888-91. 14571276 | ||
Inherited Arrhythmia | CPVT | Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation. 2001 103(4):485-90. 11157710 | |||
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.Val2306Leu | c.6916G>C | Unknown | SIFT: Polyphen: |