No paralogue variants have been mapped to residue 3196 for RYR1.
RYR1 | YRTLCSIYSLGTTKNTYVEKLRPALGECLA>R<LAAAMPVAFLEPQLNEYNACSVYTTKSPRE | 3226 |
RYR2 | YRILTSLYALGTSKSIYVERQRSALGECLA>A<FAGAFPVAFLETHLDKHNIYSIYNTKSSRE | 3191 |
RYR3 | YHILCSLYSLGTGKNIYVERQRPALGECLA>S<LAAAIPVAFLEPTLNRYNPLSVFNTKTPRE | 3087 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3196C | c.9586C>T | Putative Benign | SIFT: Polyphen: |