No paralogue variants have been mapped to residue 2218 for RYR1.
RYR1 | NKVFYQHPNLMRALGMHETVMEVMVNVLGG>G<ESKEIRFPKMVTSCCRFLCYFCRISRQNQR | 2248 |
RYR2 | NKVFYQHPNLMRALGMHETVMEVMVNVLGG>G<ESKEITFPKMVANCCRFLCYFCRISRQNQK | 2212 |
RYR3 | NKVFYQHPNLMRVLGMHETVMEVMVNVLGT>-<EKSQIAFPKMVASCCRFLCYFCRISRQNQK | 2109 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2218S | c.6652G>A | Putative Benign | SIFT: Polyphen: |