Paralogue Annotation for RYR2 residue 1161

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1161
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1161

No paralogue variants have been mapped to residue 1161 for RYR2.



RYR2DERAFAFDGFKAQRWHQGNEHYGRSWQAGD>V<VGCMVDMNEHTMMFTLNGEILLDDSGSELA1191
RYR1DELAYVFNGHRGQRWHLGSEPFGRPWQPGD>V<VGCMIDLTENTIIFTLNGEVLMSDSGSETA1177
RYR3DDQAFVFEGNRGQRWHQGSGYFGRTWQPGD>V<VGCMINLDDASMIFTLNGELLITNKGSELA1177
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1161Lc.3481G>C 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
p.V1161Fc.3481G>T Putative BenignSIFT:
Polyphen: