No paralogue variants have been mapped to residue 466 for RYR2.
RYR2 | AKA----STVDLPIESVSLSLQDLIGYFHP>P<DEHLEHEDKQNRLRALKNRQNLFQEEGMIN | 496 |
RYR1 | PRGSGPPAGTALPIEGVILSLQDLIIYFEP>P<SEDLQHEEKQSKLRSLRNRQSLFQEEGMLS | 484 |
RYR3 | RTA----APITLPIEEVLQTLQDLIAYFQP>P<EEEMRHEDKQNKLRSLKNRQNLFKEEGMLA | 483 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P466A | c.1396C>G | Inherited Arrhythmia | CPVT | rs376612295 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | CPVT | Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. Heart Rhythm. 2005 2(10):1099-105. 16188589 | ||
Inherited Arrhythmia | CPVT | 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 | |||
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 |