No paralogue variants have been mapped to residue 2183 for RYR1.
RYR1 | MSLLECLGQIRSLLIVQMGPQEENLMIQSI>G<NIMNNKVFYQHPNLMRALGMHETVMEVMVN | 2213 |
RYR2 | INLLASLGQIRSLLSVRMGKEEEKLMIRGL>G<DIMNNKVFYQHPNLMRALGMHETVMEVMVN | 2177 |
RYR3 | INLLAALGQIRSLLSVRMGKEEELLMINGL>G<DIMNNKVFYQHPNLMRVLGMHETVMEVMVN | 2075 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2183R | c.6547G>A | Putative Benign | SIFT: Polyphen: | ||
p.G2183R | c.6547G>C | Putative Benign | SIFT: Polyphen: |