No paralogue variants have been mapped to residue 217 for RYR2.
| RYR2 | SSERYLHLSYGNGSLHVDAAFQQTLWSVAP>I<SSGSEAAQGYLIGGDVLRLLHGHMDECLTV | 247 |
| RYR1 | SSERYLHLSTASGELQVDASFMQTLWNMNP>I<CSR--CEEGFVTGGHVLRLFHGHMDECLTI | 232 |
| RYR3 | SSERYLHLSVSNGNIQVDASFMQTLWNVHP>T<CSGSSIEEGYLLGGHVVRLFHGH-DECLTI | 236 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I217V | c.649A>G | Inherited Arrhythmia | LQTS | rs200642525 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | 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 | ||
| Inherited Arrhythmia | LQTS | 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 | LQTS | 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 | |||
| Cardiomyopathy | ARVD/C | Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis. Europace. 2016 27194543 | |||