Paralogue Annotation for RYR2 residue 702

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 702
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 702

No paralogue variants have been mapped to residue 702 for RYR2.



RYR2KWYYELMVDHTEPFVTAEATHLRVGWASTE>G<YSPYPGGGEEWGGNGVGDDLFSYGFDGLHL732
RYR1KWYFEVMVDEVTPFLTAQATHLRVGWALTE>G<YTPYPGAGEGWGGNGVGDDLYSYGFDGLHL720
RYR3KWYFELIIDQVDPFLTAEPTHLRVGWASSS>G<YAPYPGGGEGWGGNGVGDDLYSYGFDGLHL719
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G702Rc.2104G>A Putative BenignSIFT: deleterious
Polyphen: probably damaging
ReportsUnknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510