No paralogue variants have been mapped to residue 1424 for RYR1.
RYR1 | KVAMMTQPPATPTLPRLPHDVVPADNRDDP>E<IILNTTTYYYSVRVFAGQEPSCVWAGWVTP | 1454 |
RYR2 | LLRRTKPDYSTSHSARLTEDVLADDRDDYD>F<LMQT-STYYYSVRIFPGQEPANVWVGWITS | 1448 |
RYR3 | -------------SPCLDSEAFQKRKQMQE>I<LSHTTTQCYYAIRIFAGQDPSCVWVGWVTP | 1350 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1424K | c.4270G>A | Putative Benign | SIFT: tolerated Polyphen: benign |