No paralogue variants have been mapped to residue 1821 for RYR1.
RYR1 | AAEAPARLSPAIPLEALRDKALRMLGEAVR>D<GGQHARDPVGGSVEFQFVPVLKLVSTLLVM | 1851 |
RYR2 | -SNECYQYSPEFPLDILKSKTIQMLTEAVK>E<GSLHARDPVGGTTEFLFVPLIKLFYTLLIM | 1831 |
RYR3 | -GEDHQKQSPEIPLESLRTKALSMLTEAVQ>C<SGAHIRDPVGGSVEFQFVPVLKLIGTLLVM | 1735 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1821Y | c.5461G>T | Putative Benign | rs139709595 | SIFT: Polyphen: probably damaging | |
p.D1821N | c.5461G>A | Putative Benign | SIFT: Polyphen: |