Paralogue Annotation for RYR2 residue 3190

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3190
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3190

No paralogue variants have been mapped to residue 3190 for RYR2.



RYR2AAFAGAFPVAFLETHLDKHNIYSIYNTKSS>R<ERAALSLPTNVEDVCPNIPSLEKLMEEIVE3220
RYR1ARLAAAMPVAFLEPQLNEYNACSVYTTKSP>R<ERAILGLPNSVEEMCPDIPVLERLMADIGG3255
RYR3ASLAAAIPVAFLEPTLNRYNPLSVFNTKTP>R<ERSILGMPDTVEDMCPDIPQLEGLMKEIND3116
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R3190Qc.9569G>A Putative BenignSIFT: tolerated
Polyphen: benign
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