No paralogue variants have been mapped to residue 2179 for RYR2.
RYR2 | IMNNKVFYQHPNLMRALGMHETVMEVMVNV>L<GGGESKEITFPKMVANCCRFLCYFCRISRQ | 2209 |
RYR1 | IMNNKVFYQHPNLMRALGMHETVMEVMVNV>L<GGGESKEIRFPKMVTSCCRFLCYFCRISRQ | 2245 |
RYR3 | IMNNKVFYQHPNLMRVLGMHETVMEVMVNV>L<GT-EKSQIAFPKMVASCCRFLCYFCRISRQ | 2106 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2179F | c.6535C>T | Unknown | SIFT: Polyphen: probably damaging |