No paralogue variants have been mapped to residue 1443 for RYR1.
RYR1 | DVVPADNRDDPEIILNTTTYYYSVRVFAGQ>E<PSCVWAGWVTPDYHQHDMSFDLSKVRVVTV | 1473 |
RYR2 | DVLADDRDDYDFLMQT-STYYYSVRIFPGQ>E<PANVWVGWITSDFHQYDTGFDLDRVRTVTV | 1467 |
RYR3 | EAFQKRKQMQEILSHTTTQCYYAIRIFAGQ>D<PSCVWVGWVTPDYHLYSEKFDLNKNCTVTV | 1369 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1443K | c.4327G>A | Putative Benign | SIFT: Polyphen: |