No paralogue variants have been mapped to residue 1438 for RYR1.
RYR1 | PRLPHDVVPADNRDDPEIILNTTTYYYSVR>V<FAGQEPSCVWAGWVTPDYHQHDMSFDLSKV | 1468 |
RYR2 | ARLTEDVLADDRDDYDFLMQT-STYYYSVR>I<FPGQEPANVWVGWITSDFHQYDTGFDLDRV | 1462 |
RYR3 | PCLDSEAFQKRKQMQEILSHTTTQCYYAIR>I<FAGQDPSCVWVGWVTPDYHLYSEKFDLNKN | 1364 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1438I | c.4312G>A | Putative Benign | SIFT: Polyphen: |