No paralogue variants have been mapped to residue 1457 for RYR1.
RYR1 | LNTTTYYYSVRVFAGQEPSCVWAGWVTPDY>H<QHDMSFDLSKVRVVTVTMGDEQGNVHSSLK | 1487 |
RYR2 | QT-STYYYSVRIFPGQEPANVWVGWITSDF>H<QYDTGFDLDRVRTVTVTLGDEKGKVHESIK | 1481 |
RYR3 | HTTTQCYYAIRIFAGQDPSCVWVGWVTPDY>H<LYSEKFDLNKNCTVTVTLGDERGRVHESVK | 1383 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H1457R | c.4370A>G | Putative Benign | SIFT: Polyphen: |