No paralogue variants have been mapped to residue 1460 for RYR1.
RYR1 | TTYYYSVRVFAGQEPSCVWAGWVTPDYHQH>D<MSFDLSKVRVVTVTMGDEQGNVHSSLKCSN | 1490 |
RYR2 | STYYYSVRIFPGQEPANVWVGWITSDFHQY>D<TGFDLDRVRTVTVTLGDEKGKVHESIKRSN | 1484 |
RYR3 | TQCYYAIRIFAGQDPSCVWVGWVTPDYHLY>S<EKFDLNKNCTVTVTLGDERGRVHESVKRSN | 1386 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1460N | c.4378G>A | Putative Benign | SIFT: Polyphen: | ||
p.D1460E | c.4380C>G | Putative Benign | SIFT: Polyphen: |