No paralogue variants have been mapped to residue 2186 for RYR1.
RYR1 | LECLGQIRSLLIVQMGPQEENLMIQSIGNI>M<NNKVFYQHPNLMRALGMHETVMEVMVNVLG | 2216 |
RYR2 | LASLGQIRSLLSVRMGKEEEKLMIRGLGDI>M<NNKVFYQHPNLMRALGMHETVMEVMVNVLG | 2180 |
RYR3 | LAALGQIRSLLSVRMGKEEELLMINGLGDI>M<NNKVFYQHPNLMRVLGMHETVMEVMVNVLG | 2078 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M2186V | c.6556A>G | Putative Benign | SIFT: Polyphen: benign |