No paralogue variants have been mapped to residue 3500 for RYR1.
RYR1 | LTADNKSKMAKAGDIQSGGSDQERTKKKRR>G<DRYSVQTSLIVATLKKMLPIGLNMCAPTDQ | 3530 |
RYR2 | LITDTKSKMSKAA-----VSDQERKKMKRK>G<DRYSMQTSLIVAALKRLLPIGLNICAPGDQ | 3486 |
RYR3 | LTGDSKSKMSKAMQVKSGGQDQERKKTKRR>G<DLYSIQTSLIVAALKKMLPIGLNMCTPGDQ | 3387 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G3500E | c.10499G>A | Putative Benign | SIFT: Polyphen: |