No paralogue variants have been mapped to residue 1154 for RYR1.
RYR1 | NGHRGQRWHLGSEPFGRPWQPGDVVGCMID>L<TENTIIFTLNGEVLMSDSGSETAFREIEIG | 1184 |
RYR2 | DGFKAQRWHQGNEHYGRSWQAGDVVGCMVD>M<NEHTMMFTLNGEILLDDSGSELAFKDFDVG | 1198 |
RYR3 | EGNRGQRWHQGSGYFGRTWQPGDVVGCMIN>L<DDASMIFTLNGELLITNKGSELAFADYEIE | 1184 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1154F | c.3460C>T | Putative Benign | SIFT: Polyphen: |