No paralogue variants have been mapped to residue 4298 for RYR2.
RYR2 | MKKVKKMTVKDMVTAFFSSYWSIFMTLLHF>V<ASVFRGFFRIICSLLLGGSLVEGAKKIKVA | 4328 |
RYR1 | VRRLRRLTAREAATAVAALLWAAVTRAGAA>G<AGAAAGALGLLWGSLFGGGLVEGAKKVTVT | 4377 |
RYR3 | YRNVKKMTAKELVKVLFSFFWMLFVGLFQL>L<FTILGGIFQILWSTVFGGGLVEGAKNIRVT | 4229 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V4298M | c.12892G>A | Inherited Arrhythmia | LQTS | SIFT: tolerated Polyphen: benign | |
Reports | Inherited Arrhythmia | LQTS | A novel mutation in the cardiac ryanodine receptor gene (RyR2) in a patient with an unequivocal LQTS. Int J Cardiol. 2011 146(2):249-50. 21126784 |