No paralogue variants have been mapped to residue 3502 for RYR1.
RYR1 | ADNKSKMAKAGDIQSGGSDQERTKKKRRGD>R<YSVQTSLIVATLKKMLPIGLNMCAPTDQDL | 3532 |
RYR2 | TDTKSKMSKAA-----VSDQERKKMKRKGD>R<YSMQTSLIVAALKRLLPIGLNICAPGDQEL | 3488 |
RYR3 | GDSKSKMSKAMQVKSGGQDQERKKTKRRGD>L<YSIQTSLIVAALKKMLPIGLNMCTPGDQEL | 3389 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3502W | c.10504C>T | Putative Benign | rs375127981 | SIFT: tolerated Polyphen: benign | |
p.R3502Q | c.10505G>A | Putative Benign | rs369422480 | SIFT: tolerated Polyphen: benign |