No paralogue variants have been mapped to residue 1436 for RYR1.
RYR1 | TLPRLPHDVVPADNRDDPEIILNTTTYYYS>V<RVFAGQEPSCVWAGWVTPDYHQHDMSFDLS | 1466 |
RYR2 | HSARLTEDVLADDRDDYDFLMQT-STYYYS>V<RIFPGQEPANVWVGWITSDFHQYDTGFDLD | 1460 |
RYR3 | -SPCLDSEAFQKRKQMQEILSHTTTQCYYA>I<RIFAGQDPSCVWVGWVTPDYHLYSEKFDLN | 1362 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1436M | c.4306G>A | Putative Benign | rs200289457 | SIFT: Polyphen: probably damaging |