No paralogue variants have been mapped to residue 3458 for RYR2.
RYR2 | TDTKSKMSKAA-----VSDQERKKMKRKGD>R<YSMQTSLIVAALKRLLPIGLNICAPGDQEL | 3488 |
RYR1 | ADNKSKMAKAGDIQSGGSDQERTKKKRRGD>R<YSVQTSLIVATLKKMLPIGLNMCAPTDQDL | 3532 |
RYR3 | GDSKSKMSKAMQVKSGGQDQERKKTKRRGD>L<YSIQTSLIVAALKKMLPIGLNMCTPGDQEL | 3389 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3458Q | c.10373G>A | Putative Benign | SIFT: Polyphen: |