No paralogue variants have been mapped to residue 4188 for RYR2.
RYR2 | TQWEKPQVKESKRQFIFDVVNEGGEKEKME>L<FVNFCEDTIFEMQLAAQISESDLNERSANK | 4218 |
RYR1 | AQWEMPQVKESKRQFIFDVVNEGGEAEKME>L<FVSFCEDTIFEMQIAAQISEPEGEPETDED | 4262 |
RYR3 | TQWEKPQVKESKRQFIFDVVNEGGEQEKME>L<FVNFCEDTIFEMQLASQISESDSADRPEEE | 4114 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L4188P | c.12563T>C | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Novel ryanodine receptor 2 mutation associated with a severe phenotype of catecholaminergic polymorphic ventricular tachycardia. J Pediatr. 2012 161(2):362-4. 22608700 | ||
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 |