Paralogue Annotation for RYR1 residue 2247

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2247
Reference Amino Acid: Q - Glutamine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2247

No paralogue variants have been mapped to residue 2247 for RYR1.



RYR1GGESKEIRFPKMVTSCCRFLCYFCRISRQN>Q<RSMFDHLSYLLENSGIG--L-GMQGSTPLD2274
RYR2GGESKEITFPKMVANCCRFLCYFCRISRQN>Q<KAMFDHLSYLLENSSVGLASPAMRGSTPLD2241
RYR3T-EKSQIAFPKMVASCCRFLCYFCRISRQN>Q<KAMFEHLSYLLENSSVGLASPSMRGSTPLD2138
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q2247Rc.6740A>G Putative BenignSIFT:
Polyphen: