No paralogue variants have been mapped to residue 2475 for RYR2.
RYR2 | IAKDGNVVEPDMSAGFCPDHKAAMVLFLDR>V<YGIEVQDFLLHLLEVGFLPDLRAAASLDTA | 2505 |
RYR1 | LGKDGALVQPKMSASFVPDHKASMVLFLDR>V<YGIENQDFLLHVLDVGFLPDMRAAASLDTA | 2539 |
RYR3 | LNKDGSVSEPDMAANFCPDHKAPMVLFLDR>V<YGIKDQTFLLHLLEVGFLPDLRASASLDTV | 2402 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V2475F | c.7423G>T | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Pathogenesis of unexplained drowning: new insights from a molecular autopsy. Mayo Clin Proc. 2005 80(5):596-600. 15887426 | ||
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 | Heterogeneity of ryanodine receptor dysfunction in a mouse model of catecholaminergic polymorphic ventricular tachycardia. Circ Res. 2013 112(2):298-308. doi: 10.1161/CIRCRESAHA.112.274803 23152493 | |||
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 |