No paralogue variants have been mapped to residue 2113 for RYR2.
| RYR2 | AMFVLLHRQYDGIGGLVRALPKTYTINGVS>V<EDTINLLASLGQIRSLLSVRMGKEEEKLMI | 2143 |
| RYR1 | AMFSLLHRQYDGLGELLRALPRAYTISPSS>V<EDTMSLLECLGQIRSLLIVQMGPQEENLMI | 2179 |
| RYR3 | MMFNLLRRQYDSIGELLQALRKTYTISHTS>V<SDTINLLAALGQIRSLLSVRMGKEEELLMI | 2041 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V2113M | c.6337G>A | Conflict | rs186906598 | SIFT: tolerated Polyphen: possibly damaging | |
| 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 | |||
| Unknown | Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc. 2012 87(6):524-39. doi: 10.1016/j.mayocp.2012.02.017. 22677073 | ||||
| Unknown | The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 2014 Aug;16(8):601-8. 24503780 | ||||
| Inherited Arrhythmia | CPVT | Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024. 27153395 | |||