No paralogue variants have been mapped to residue 1765 for RYR2.
| RYR2 | D------ENKKHGLPGIGLSTSLRPRMQFS>S<PSFVSI------SNECYQYSPEFPLDILKS | 1789 |
| RYR1 | PGRSTENGHPRHGLPGVGVTTSLRPPHHFS>P<PCFVAALPAAGAAEAPARLSPAIPLEALRD | 1809 |
| RYR3 | D------ESKRHGLPGVGLRTCLKPGFRFS>T<PCFVVT------GEDHQKQSPEIPLESLRT | 1693 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S1765C | c.5294C>G | Other Cardiac Phenotype | SIFT: tolerated Polyphen: benign | ||
| Reports | Other Cardiac Phenotype | Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders. Electrophoresis. 2014 35(21-22):3111-6. doi: 10.1002/elps.201400148. 24981977 | |||
| 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.S1765F | c.5294C>T | Putative Benign | SIFT: Polyphen: | ||