No paralogue variants have been mapped to residue 3226 for RYR1.
RYR1 | RLAAAMPVAFLEPQLNEYNACSVYTTKSPR>E<RAILGLPNSVEEMCPDIPVLERLMADIGGL | 3256 |
RYR2 | AFAGAFPVAFLETHLDKHNIYSIYNTKSSR>E<RAALSLPTNVEDVCPNIPSLEKLMEEIVEL | 3221 |
RYR3 | SLAAAIPVAFLEPTLNRYNPLSVFNTKTPR>E<RSILGMPDTVEDMCPDIPQLEGLMKEINDL | 3117 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3226Q | c.9676G>C | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other 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 |