Paralogue Annotation for RYR2 residue 3938

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3938
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3938

No paralogue variants have been mapped to residue 3938 for RYR2.



RYR2KAIQVAKQVFNTLTEYIQGPCTGNQQSLAH>S<RLWDAVVGFLHVFAHMQMKLSQDSSQIELL3968
RYR1KAMSVAKQVFNSLTEYIQGPCTGNQQSLAH>S<RLWDAVVGFLHVFAHMMMKLAQDSSQIELL4012
RYR3KALAVTKQIFNSLTEYIQGPCIGNQQSLAH>S<RLWDAVVGFLHVFANMQMKLSQDSSQIELL3864
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S3938Rc.11814C>A Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT 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 ArrhythmiaCPVT 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 ArrhythmiaCPVT 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 ArrhythmiaCPVT 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 ArrhythmiaCPVT 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.Ser3938Argc.11812A>C UnknownSIFT:
Polyphen: