No paralogue variants have been mapped to residue 1807 for RYR2.
RYR2 | QYSPEFPLDILKSKTIQMLTEAVKEGSLHA>R<DPVGGTTEFLFVPLIKLFYTLLIMGIFHNE | 1837 |
RYR1 | RLSPAIPLEALRDKALRMLGEAVRDGGQHA>R<DPVGGSVEFQFVPVLKLVSTLLVMGIFGDE | 1857 |
RYR3 | KQSPEIPLESLRTKALSMLTEAVQCSGAHI>R<DPVGGSVEFQFVPVLKLIGTLLVMGVFDDD | 1741 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1807Q | c.5420G>A | Putative Benign | SIFT: deleterious Polyphen: probably damaging | ||
p.R1807W | c.5419C>T | Putative Benign | SIFT: Polyphen: |