No paralogue variants have been mapped to residue 1183 for RYR1.
RYR1 | DLTENTIIFTLNGEVLMSDSGSETAFREIE>I<GDGFLPVCSLGPGQVGHLNLGQDVSSLRFF | 1213 |
RYR2 | DMNEHTMMFTLNGEILLDDSGSELAFKDFD>V<GDGFIPVCSLGVAQVGRMNFGKDVSTLKYF | 1227 |
RYR3 | NLDDASMIFTLNGELLITNKGSELAFADYE>I<ENGFVPICCLGLSQIGRMNLGTDASTFKFY | 1213 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I1183T | c.3548T>C | Putative Benign | SIFT: Polyphen: |