No paralogue variants have been mapped to residue 2942 for RYR1.
RYR1 | TAKEKARDREKAQELLKFLQMNGYAVTRGL>K<DMELDSSSIEKRFAFGFLQQLLRWMDISQE | 2972 |
RYR2 | TAKEKAKDREKAQDILKFLQINGYAVSRGF>K<DLELDTPSIEKRFAYSFLQQLIRYVDEAHQ | 2938 |
RYR3 | TAKEKFKDREKAQDLFKFLQVNGIIVSRGM>K<DMELDASSMEKRFAYKFLKKILKYVDSAQE | 2833 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K2942R | c.8825A>G | Putative Benign | SIFT: Polyphen: |