No paralogue variants have been mapped to residue 1885 for RYR2.
| RYR2 | -K---ELS----VDDAK-LQGAGEE--EAK>G<GKRPKEGLLQMKLPEPVKLQMCLLLQYLCD | 1915 |
| RYR1 | DEEEKEEDEEETAQEKEDEEKEEEEAAEGE>K<EEGLEEGLLQMKLPESVKLQMCHLLEYFCD | 1948 |
| RYR3 | -E---VTQ----VEEKA-VEAG-----EKA>G<KEAPVKGLLQTRLPESVKLQMCELLSYLCD | 1816 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G1885E | c.5654G>A | Conflict | rs41315858 | SIFT: tolerated Polyphen: benign | |
| Reports | Benign | 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 | Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm. 2011 8(6):864-71. 21315846 | |||
| Putative Benign | Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Res. 2006 71(3):496-505. 16769042 | ||||
| Inherited Arrhythmia | CPVT | ARVC-related mutations in divergent region 3 alter functional properties of the cardiac ryanodine receptor. Biophys J. 2008 94(12):4668-77. doi: 10.1529/biophysj.107.122382. 18326664 | |||
| 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 | Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet. 2001 10(3):189-94. 11159936 | ||||
| Unknown | Genetic variability of RyR2 and CASQ2 genes in an Asian population. Forensic Sci Int. 2009 192(1-3):53-5. doi: 10.1016/j.forsciint.2009.07.01 19709828 | ||||
| Inherited Arrhythmia | CPVT | Evolution of a genetic diagnosis. Clin Genet. 2014 86(6):580-4. doi: 10.1111/cge.12320. 24237251 | |||
| 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 | |||
| p.G1885W | c.5653G>T | Putative Benign | rs200197527 | SIFT: deleterious Polyphen: probably damaging | |
| p.G1885A | c.5654G>C | Putative Benign | SIFT: Polyphen: | ||