No paralogue variants have been mapped to residue 1447 for RYR2.
RYR2 | DFLMQT-STYYYSVRIFPGQEPANVWVGWI>T<SDFHQYDTGFDLDRVRTVTVTLGDEKGKVH | 1477 |
RYR1 | PEIILNTTTYYYSVRVFAGQEPSCVWAGWV>T<PDYHQHDMSFDLSKVRVVTVTMGDEQGNVH | 1483 |
RYR3 | EILSHTTTQCYYAIRIFAGQDPSCVWVGWV>T<PDYHLYSEKFDLNKNCTVTVTLGDERGRVH | 1379 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1447I | c.4340C>T | Putative Benign | SIFT: Polyphen: |