Paralogue Annotation for RYR2 residue 847

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 847
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 847

No paralogue variants have been mapped to residue 847 for RYR2.



RYR2PGYAPCYEAVLPKEKLKVEHSREYKQERTY>T<RDLLGPTVSLTQAAFTPIPVDTSQIVLPPH877
RYR1PGYAPCHEAVLPRERLHLEPIKEYRREGPR>G<PHLVGPSRCLSHTDFVPCPVDTVQIVLPPH865
RYR3SGYAPCYEALLPKEKMRLEPVKEYKRDADG>I<RDLLGTTQFLSQASFIPCPVDTSQVILPPH864
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T847Ac.2539A>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