Paralogue Annotation for RYR1 residue 830

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 830
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 830

No paralogue variants have been mapped to residue 830 for RYR1.



RYR1KFLPPPGYAPCHEAVLPRERLHLEPIKEYR>R<EGPRGPHLVGPSRCLSHTDFVPCPVDTVQI860
RYR2KFLPPPGYAPCYEAVLPKEKLKVEHSREYK>Q<ERTYTRDLLGPTVSLTQAAFTPIPVDTSQI872
RYR3KFLPPSGYAPCYEALLPKEKMRLEPVKEYK>R<DADGIRDLLGTTQFLSQASFIPCPVDTSQV859
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R830Wc.2488C>T Other Disease PhenotypeSIFT:
Polyphen: probably damaging
ReportsOther Disease Phenotype RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015 22(7):1094-112. doi: 10.1111/ene.12713. 25960145
p.R830Qc.2489G>A Putative BenignSIFT:
Polyphen: