No paralogue variants have been mapped to residue 2195 for RYR1.
RYR1 | LLIVQMGPQEENLMIQSIGNIMNNKVFYQH>P<NLMRALGMHETVMEVMVNVLGGGESKEIRF | 2225 |
RYR2 | LLSVRMGKEEEKLMIRGLGDIMNNKVFYQH>P<NLMRALGMHETVMEVMVNVLGGGESKEITF | 2189 |
RYR3 | LLSVRMGKEEELLMINGLGDIMNNKVFYQH>P<NLMRVLGMHETVMEVMVNVLGT-EKSQIAF | 2086 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2195L | c.6584C>T | Putative Benign | SIFT: Polyphen: |