No paralogue variants have been mapped to residue 4097 for RYR2.
RYR2 | LSCAETDENETLDYEEFVKRFHEPAKDIGF>N<VAVLLTNLSEHMPNDTRLQTFLELAESVLN | 4127 |
RYR1 | LSCSEADENEMINCEEFANRFQEPARDIGF>N<VAVLLTNLSEHVPHDPRLHNFLELAESILE | 4171 |
RYR3 | LSCAEADENDMFNYVDFVDRFHEPAKDIGF>N<VAVLLTNLSEHMPNDSRLKCLLDPAESVLN | 4023 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N4097S | c.12290A>G | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. Mayo Clin Proc. 2004 79(11):1380-4. 15544015 | ||
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 |