No paralogue variants have been mapped to residue 4919 for RYR2.
RYR2 | FICGIGNDYFDTVPHGFETHTLQEHNLANY>L<FFLMYLINKDETEHTGQESYVWKMYQERCW | 4949 |
RYR1 | FICGIGSDYFDTTPHGFETHTLEEHNLANY>M<FFLMYLINKDETEHTGQESYVWKMYQERCW | 5020 |
RYR3 | FICGIGNDYFDTTPHGFETHTLQEHNLANY>L<FFLMYLINKDETEHTGQESYVWKMYQERCW | 4852 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L4919S | c.14756T>C | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: possibly damaging | |
Reports | Inherited Arrhythmia | CPVT | Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086 |