No paralogue variants have been mapped to residue 1013 for RYR2.
| RYR2 | LSFIKLTPSQEAMVDKLAENAHNVWARDRI>R<QGWTYGIQQDVKNRRNPRLVPYTLLDDRTK | 1043 |
| RYR1 | LSHVRLTPAQTTLVDRLAENGHNVWARDRV>G<QGWSYSAVQDIPARRNPRLVPYRLLDEATK | 1031 |
| RYR3 | LSDVKLLPPQEILVDKLAENAHNVWAKDRI>K<QGWTYGIQQDLKNKRNPRLVPYALLDERTK | 1030 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R1013Q | c.3038G>A | Conflict | rs149514924 | SIFT: tolerated 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 | |||
| Inherited Arrhythmia | CPVT | Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113 | |||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | ||||
| 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 | |||
| Inherited Arrhythmia | CPVT | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 | |||
| p.R1013W | c.3037C>T | Putative Benign | SIFT: Polyphen: | ||
| Reports | Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | |||
| p.R1013L | c.3038G>T | Putative Benign | SIFT: Polyphen: | ||