No paralogue variants have been mapped to residue 1166 for RYR1.
RYR1 | EPFGRPWQPGDVVGCMIDLTENTIIFTLNG>E<VLMSDSGSETAFREIEIGDGFLPVCSLGPG | 1196 |
RYR2 | EHYGRSWQAGDVVGCMVDMNEHTMMFTLNG>E<ILLDDSGSELAFKDFDVGDGFIPVCSLGVA | 1210 |
RYR3 | GYFGRTWQPGDVVGCMINLDDASMIFTLNG>E<LLITNKGSELAFADYEIENGFVPICCLGLS | 1196 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1166D | c.3498G>C | Putative Benign | SIFT: Polyphen: |