No paralogue variants have been mapped to residue 1136 for RYR2.
RYR2 | ETVTAGDMRVGWSRPGCQPDQELGSDERAF>A<FDGFKAQRWHQGNEHYGRSWQAGDVVGCMV | 1166 |
RYR1 | EAVTTGEMRVGWARPELRPDVELGADELAY>V<FNGHRGQRWHLGSEPFGRPWQPGDVVGCMI | 1152 |
RYR3 | EVVTGGDMRVGWARPGCRPDVELGADDQAF>V<FEGNRGQRWHQGSGYFGRTWQPGDVVGCMI | 1152 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1136V | c.3407C>T | Conflict | rs72549415 | SIFT: tolerated Polyphen: benign | |
Reports | Inherited Arrhythmia | CPVT | Systematic assessment of patients with unexplained cardiac arrest: Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER). Circulation. 2009 120(4):278-85. 19597050 | ||
Inherited Arrhythmia | CPVT | Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm. 2011 8(6):864-71. 21315846 | |||
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 | 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 | Evolution of a genetic diagnosis. Clin Genet. 2014 86(6):580-4. doi: 10.1111/cge.12320. 24237251 | |||
Inherited Arrhythmia | CPVT | Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. Genet Med. 2015 17(10):782-8. doi: 10.1038/gim.2014.196. 25569433 | |||
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 |