No paralogue variants have been mapped to residue 1809 for RYR1.
RYR1 | PPCFVAALPAAGAAEAPARLSPAIPLEALR>D<KALRMLGEAVRDGGQHARDPVGGSVEFQFV | 1839 |
RYR2 | SPSFVSI------SNECYQYSPEFPLDILK>S<KTIQMLTEAVKEGSLHARDPVGGTTEFLFV | 1819 |
RYR3 | TPCFVVT------GEDHQKQSPEIPLESLR>T<KALSMLTEAVQCSGAHIRDPVGGSVEFQFV | 1723 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1809E | c.5427C>G | Putative Benign | rs201086478 | SIFT: Polyphen: benign |