No paralogue variants have been mapped to residue 3498 for RYR1.
RYR1 | SFLTADNKSKMAKAGDIQSGGSDQERTKKK>R<RGDRYSVQTSLIVATLKKMLPIGLNMCAPT | 3528 |
RYR2 | SFLITDTKSKMSKAA-----VSDQERKKMK>R<KGDRYSMQTSLIVAALKRLLPIGLNICAPG | 3484 |
RYR3 | AFLTGDSKSKMSKAMQVKSGGQDQERKKTK>R<RGDLYSIQTSLIVAALKKMLPIGLNMCTPG | 3385 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3498G | c.10492C>G | Putative Benign | rs201358408 | SIFT: Polyphen: benign | |
p.R3498L | c.10493G>T | Putative Benign | SIFT: deleterious Polyphen: benign | ||
p.R3498H | c.10493G>A | Putative Benign | SIFT: Polyphen: | ||
p.R3498C | c.10492C>T | Unknown | SIFT: Polyphen: benign |