Paralogue Annotation for RYR2 residue 769

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 769
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 769

No paralogue variants have been mapped to residue 769 for RYR2.



RYR2RTVSSPNQHLLRTDDVISCCLDLSAPSISF>R<INGQPVQGMFENFNIDGLFFPVVSFSAGIK799
RYR1RPVTSPGQHLLAPEDVISCCLDLSVPSISF>R<INGCPVQGVFESFNLDGLFFPVVSFSAGVK787
RYR3RAVASINQHLLRSDDVVSCCLDLGVPSISF>R<INGQPVQGMFENFNTDGLFFPVMSFSAGVK786
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R769Qc.2306G>A Putative BenignSIFT:
Polyphen:
p.R769Gc.2305C>G UnknownSIFT:
Polyphen:
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.Arg769Leuc.2306G>T UnknownSIFT:
Polyphen: