No paralogue variants have been mapped to residue 2498 for RYR2.
RYR2 | MVLFLDRVYGIEVQDFLLHLLEVGFLPDLR>A<AASLDTAALSATDMALALNRYLCTAVLPLL | 2528 |
RYR1 | MVLFLDRVYGIENQDFLLHVLDVGFLPDMR>A<AASLDTATFSTTEMALALNRYLCLAVLPLI | 2562 |
RYR3 | MVLFLDRVYGIKDQTFLLHLLEVGFLPDLR>A<SASLDTVSLSTTEAALALNRYICSAVLPLL | 2425 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2498V | c.7493C>T | Inherited Arrhythmia | CPVT | rs374191985 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | CPVT | Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation. 2009 119(18):2426-34. 19398665 | ||
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 | 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 | ||||
p.A2498T | c.7492G>A | Putative Benign | SIFT: Polyphen: |