Paralogue Annotation for RYR1 residue 2118

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2118
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2118

No paralogue variants have been mapped to residue 2118 for RYR1.



RYR1ESKPRSLQELVSHMVVRWAQEDFVQSPELV>R<AMFSLLHRQYDGLGELLRALPRAYTISPSS2148
RYR2SKKSSTLQQLISETMVRWAQESVIEDPELV>R<AMFVLLHRQYDGIGGLVRALPKTYTINGVS2112
RYR3ERCPTTLKELISQTMICWAQEDQIQDSELV>R<MMFNLLRRQYDSIGELLQALRKTYTISHTS2010
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R2118Wc.6352C>T Other MyopathySIFT:
Polyphen: possibly damaging
ReportsOther Myopathy Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. J Neurol. 2015 262(7):1728-40. doi: 10.1007/s00415-015-7757-9. 25957634
p.R2118Pc.6353G>C Putative BenignSIFT:
Polyphen: benign