No paralogue variants have been mapped to residue 2149 for RYR2.
RYR2 | LLASLGQIRSLLSVRMGKEEEKLMIRGLGD>I<MNNKVFYQHPNLMRALGMHETVMEVMVNVL | 2179 |
RYR1 | LLECLGQIRSLLIVQMGPQEENLMIQSIGN>I<MNNKVFYQHPNLMRALGMHETVMEVMVNVL | 2215 |
RYR3 | LLAALGQIRSLLSVRMGKEEELLMINGLGD>I<MNNKVFYQHPNLMRVLGMHETVMEVMVNVL | 2077 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I2149V | c.6445A>G | Putative Benign | SIFT: Polyphen: |