No paralogue variants have been mapped to residue 3938 for RYR2.
RYR2 | KAIQVAKQVFNTLTEYIQGPCTGNQQSLAH>S<RLWDAVVGFLHVFAHMQMKLSQDSSQIELL | 3968 |
RYR1 | KAMSVAKQVFNSLTEYIQGPCTGNQQSLAH>S<RLWDAVVGFLHVFAHMMMKLAQDSSQIELL | 4012 |
RYR3 | KALAVTKQIFNSLTEYIQGPCIGNQQSLAH>S<RLWDAVVGFLHVFANMQMKLSQDSSQIELL | 3864 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S3938R | c.11814C>A | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. Heart Rhythm. 2006 3(7):800-5. 16818210 | ||
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 | Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. Heart Rhythm. 2005 2(10):1099-105. 16188589 | |||
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 | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159 | |||
p.Ser3938Arg | c.11812A>C | Unknown | SIFT: Polyphen: |