No paralogue variants have been mapped to residue 3817 for RYR1.
RYR1 | GETGAMVSSTLKLGISILNGGNAEVQQKML>D<YLKDKKEVGFFQSIQALMQTCSVLDLNAFE | 3847 |
RYR2 | GETGPMVAATLKLGIAILNGGNSTVQQKML>D<YLKEKKDVGFFQSLAGLMQSCSVLDLNAFE | 3809 |
RYR3 | GEMSPMVVETLKLGIAILNGGNAGVQQKML>D<YLKEKKDAGFFQSLSGLMQSCSVLDLNAFE | 3699 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D3817V | c.11450A>T | Putative Benign | rs372491219 | SIFT: tolerated Polyphen: benign | |
p.D3817G | c.11450A>G | Putative Benign | SIFT: Polyphen: |