No paralogue variants have been mapped to residue 1462 for RYR1.
RYR1 | YYYSVRVFAGQEPSCVWAGWVTPDYHQHDM>S<FDLSKVRVVTVTMGDEQGNVHSSLKCSNCY | 1492 |
RYR2 | YYYSVRIFPGQEPANVWVGWITSDFHQYDT>G<FDLDRVRTVTVTLGDEKGKVHESIKRSNCY | 1486 |
RYR3 | CYYAIRIFAGQDPSCVWVGWVTPDYHLYSE>K<FDLNKNCTVTVTLGDERGRVHESVKRSNCY | 1388 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1462N | c.4385G>A | Putative Benign | SIFT: Polyphen: |