Paralogue Annotation for RYR1 residue 3226

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3226
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3226

No paralogue variants have been mapped to residue 3226 for RYR1.



RYR1RLAAAMPVAFLEPQLNEYNACSVYTTKSPR>E<RAILGLPNSVEEMCPDIPVLERLMADIGGL3256
RYR2AFAGAFPVAFLETHLDKHNIYSIYNTKSSR>E<RAALSLPTNVEDVCPNIPSLEKLMEEIVEL3221
RYR3SLAAAIPVAFLEPTLNRYNPLSVFNTKTPR>E<RSILGMPDTVEDMCPDIPQLEGLMKEINDL3117
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E3226Qc.9676G>C Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology. 2015 122(5):1033-46. doi: 10.1097/ALN.0000000000000610. 25658027