No paralogue variants have been mapped to residue 1157 for RYR1.
RYR1 | RGQRWHLGSEPFGRPWQPGDVVGCMIDLTE>N<TIIFTLNGEVLMSDSGSETAFREIEIGDGF | 1187 |
RYR2 | KAQRWHQGNEHYGRSWQAGDVVGCMVDMNE>H<TMMFTLNGEILLDDSGSELAFKDFDVGDGF | 1201 |
RYR3 | RGQRWHQGSGYFGRTWQPGDVVGCMINLDD>A<SMIFTLNGELLITNKGSELAFADYEIENGF | 1187 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N1157D | c.3469A>G | Putative Benign | SIFT: Polyphen: |