No paralogue variants have been mapped to residue 29 for RYR2.
RYR2 | MADGGE-GEDEIQFLRTDDEVVLQCTATI>H<KEQQKLCLAAEGFGNRLCFLESTSNSKNVP | 59 |
RYR1 | MGD-AE-GEDEVQFLRTDDEVVLQCSATV>L<KEQLKLCLAAEGFGNRLCFLEPTSNAQNVP | 58 |
RYR3 | MAEGGEGGEDEIQFLRTEDEVVLQCIATI>H<KEQRKFCLAAEGLGNRLCFLEPTSEAKYIP | 60 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H29R | c.86A>G | Putative Benign | SIFT: Polyphen: | ||
p.H29D | c.85C>G | Inherited Arrhythmia | CPVT | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | CPVT | Short-coupled polymorphic ventricular tachycardia at rest linked to a novel ryanodine receptor (RyR2) mutation: leaky RyR2 channels under non-stress conditions. Int J Cardiol. 2015 180:228-36. doi: 10.1016/j.ijcard.2014.11.119. 25463374 | ||
Inherited Arrhythmia | CPVT | The H29D Mutation Does Not Enhance Cytosolic Ca2+ Activation of the Cardiac Ryanodine Receptor. PLoS One. 2015 10(9):e0139058. doi: 10.1371/journal.pone.0139058. 26405799 |