No paralogue variants have been mapped to residue 1789 for RYR1.
RYR1 | RHGLPGVGVTTSLRPPHHFSPPCFVAALPA>A<GAAEAPARLSPAIPLEALRDKALRMLGEAV | 1819 |
RYR2 | KHGLPGIGLSTSLRPRMQFSSPSFVSI--->-<--SNECYQYSPEFPLDILKSKTIQMLTEAV | 1799 |
RYR3 | RHGLPGVGLRTCLKPGFRFSTPCFVVT--->-<--GEDHQKQSPEIPLESLRTKALSMLTEAV | 1703 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1789T | c.5365G>A | Putative Benign | SIFT: Polyphen: |