No paralogue variants have been mapped to residue 3454 for RYR2.
RYR2 | SFLITDTKSKMSKAA-----VSDQERKKMK>R<KGDRYSMQTSLIVAALKRLLPIGLNICAPG | 3484 |
RYR1 | SFLTADNKSKMAKAGDIQSGGSDQERTKKK>R<RGDRYSVQTSLIVATLKKMLPIGLNMCAPT | 3528 |
RYR3 | AFLTGDSKSKMSKAMQVKSGGQDQERKKTK>R<RGDLYSIQTSLIVAALKKMLPIGLNMCTPG | 3385 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3454C | c.10360C>T | Putative Benign | SIFT: Polyphen: |