No paralogue variants have been mapped to residue 1423 for RYR1.
RYR1 | KKVAMMTQPPATPTLPRLPHDVVPADNRDD>P<EIILNTTTYYYSVRVFAGQEPSCVWAGWVT | 1453 |
RYR2 | FLLRRTKPDYSTSHSARLTEDVLADDRDDY>D<FLMQT-STYYYSVRIFPGQEPANVWVGWIT | 1447 |
RYR3 | --------------SPCLDSEAFQKRKQMQ>E<ILSHTTTQCYYAIRIFAGQDPSCVWVGWVT | 1349 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1423S | c.4267C>T | Putative Benign | SIFT: Polyphen: possibly damaging |