Paralogue Annotation for RYR2 residue 29

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 29
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 29

No paralogue variants have been mapped to residue 29 for RYR2.



RYR2MADGGE-GEDEIQFLRTDDEVVLQCTATI>H<KEQQKLCLAAEGFGNRLCFLESTSNSKNVP59
RYR1MGD-AE-GEDEVQFLRTDDEVVLQCSATV>L<KEQLKLCLAAEGFGNRLCFLEPTSNAQNVP58
RYR3MAEGGEGGEDEIQFLRTEDEVVLQCIATI>H<KEQRKFCLAAEGLGNRLCFLEPTSEAKYIP60
cons                             > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H29Rc.86A>G Putative BenignSIFT:
Polyphen:
p.H29Dc.85C>G Inherited ArrhythmiaCPVTSIFT:
Polyphen:
ReportsInherited ArrhythmiaCPVT 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 ArrhythmiaCPVT 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