No paralogue variants have been mapped to residue 2188 for RYR1.
RYR1 | CLGQIRSLLIVQMGPQEENLMIQSIGNIMN>N<KVFYQHPNLMRALGMHETVMEVMVNVLGGG | 2218 |
RYR2 | SLGQIRSLLSVRMGKEEEKLMIRGLGDIMN>N<KVFYQHPNLMRALGMHETVMEVMVNVLGGG | 2182 |
RYR3 | ALGQIRSLLSVRMGKEEELLMINGLGDIMN>N<KVFYQHPNLMRVLGMHETVMEVMVNVLGT- | 2079 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N2188K | c.6564C>G | Putative Benign | rs373570763 | SIFT: deleterious Polyphen: benign | |
p.N2188D | c.6562A>G | Putative Benign | SIFT: Polyphen: |