No paralogue variants have been mapped to residue 1796 for RYR2.
RYR2 | ------SNECYQYSPEFPLDILKSKTIQML>T<EAVKEGSLHARDPVGGTTEFLFVPLIKLFY | 1826 |
RYR1 | LPAAGAAEAPARLSPAIPLEALRDKALRML>G<EAVRDGGQHARDPVGGSVEFQFVPVLKLVS | 1846 |
RYR3 | ------GEDHQKQSPEIPLESLRTKALSML>T<EAVQCSGAHIRDPVGGSVEFQFVPVLKLIG | 1730 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1796I | c.5387C>T | Putative Benign | SIFT: Polyphen: |