No paralogue variants have been mapped to residue 1804 for RYR2.
RYR2 | ECYQYSPEFPLDILKSKTIQMLTEAVKEGS>L<HARDPVGGTTEFLFVPLIKLFYTLLIMGIF | 1834 |
RYR1 | APARLSPAIPLEALRDKALRMLGEAVRDGG>Q<HARDPVGGSVEFQFVPVLKLVSTLLVMGIF | 1854 |
RYR3 | DHQKQSPEIPLESLRTKALSMLTEAVQCSG>A<HIRDPVGGSVEFQFVPVLKLIGTLLVMGVF | 1738 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1804F | c.5410C>T | Putative Benign | rs367609940 | SIFT: tolerated Polyphen: benign |