No paralogue variants have been mapped to residue 1814 for RYR1.
RYR1 | AALPAAGAAEAPARLSPAIPLEALRDKALR>M<LGEAVRDGGQHARDPVGGSVEFQFVPVLKL | 1844 |
RYR2 | SI------SNECYQYSPEFPLDILKSKTIQ>M<LTEAVKEGSLHARDPVGGTTEFLFVPLIKL | 1824 |
RYR3 | VT------GEDHQKQSPEIPLESLRTKALS>M<LTEAVQCSGAHIRDPVGGSVEFQFVPVLKL | 1728 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M1814K | c.5441T>A | Other Myopathy | rs193922783 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 |