No paralogue variants have been mapped to residue 1827 for RYR1.
RYR1 | RLSPAIPLEALRDKALRMLGEAVRDGGQHA>R<DPVGGSVEFQFVPVLKLVSTLLVMGIFGDE | 1857 |
RYR2 | QYSPEFPLDILKSKTIQMLTEAVKEGSLHA>R<DPVGGTTEFLFVPLIKLFYTLLIMGIFHNE | 1837 |
RYR3 | KQSPEIPLESLRTKALSMLTEAVQCSGAHI>R<DPVGGSVEFQFVPVLKLIGTLLVMGVFDDD | 1741 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1827S | c.5479C>A | Putative Benign | SIFT: Polyphen: | ||
p.R1827H | c.5480G>A | Putative Benign | SIFT: Polyphen: |