No paralogue variants have been mapped to residue 3959 for RYR2.
RYR2 | TGNQQSLAHSRLWDAVVGFLHVFAHMQMKL>S<QDSSQIELLKELMDLQKDMVVMLLSMLEGN | 3989 |
RYR1 | TGNQQSLAHSRLWDAVVGFLHVFAHMMMKL>A<QDSSQIELLKELLDLQKDMVVMLLSLLEGN | 4033 |
RYR3 | IGNQQSLAHSRLWDAVVGFLHVFANMQMKL>S<QDSSQIELLKELLDLLQDMVVMLLSLLEGN | 3885 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S3959L | c.11876C>T | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: benign | |
Reports | Inherited Arrhythmia | CPVT | The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 54(22):2065-74. 19926015 | ||
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 | |||
Other Cardiac Phenotype | Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young. Circ Cardiovasc Genet. 2016 9(3):259-65. doi: 10.1161/CIRCGENETICS.115.001370. 27114410 |