No paralogue variants have been mapped to residue 4105 for RYR2.
RYR2 | NETLDYEEFVKRFHEPAKDIGFNVAVLLTN>L<SEHMPNDTRLQTFLELAESVLNYFQPFLGR | 4135 |
RYR1 | NEMINCEEFANRFQEPARDIGFNVAVLLTN>L<SEHVPHDPRLHNFLELAESILEYFRPYLGR | 4179 |
RYR3 | NDMFNYVDFVDRFHEPAKDIGFNVAVLLTN>L<SEHMPNDSRLKCLLDPAESVLNYFEPYLGR | 4031 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L4105F | c.12313C>T | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Catecholaminergic polymorphic ventricular tachycardia caused by a novel mutation in the cardiac ryanodine receptor. Anadolu Kardiyol Derg. 2008 8(5):E35-6. 18849218 | ||
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 |