No paralogue variants have been mapped to residue 2120 for RYR1.
RYR1 | KPRSLQELVSHMVVRWAQEDFVQSPELVRA>M<FSLLHRQYDGLGELLRALPRAYTISPSSVE | 2150 |
RYR2 | KSSTLQQLISETMVRWAQESVIEDPELVRA>M<FVLLHRQYDGIGGLVRALPKTYTINGVSVE | 2114 |
RYR3 | CPTTLKELISQTMICWAQEDQIQDSELVRM>M<FNLLRRQYDSIGELLQALRKTYTISHTSVS | 2012 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M2120V | c.6358A>G | Putative Benign | SIFT: Polyphen: | ||
p.M2120T | c.6359T>C | Putative Benign | SIFT: Polyphen: |