No paralogue variants have been mapped to residue 1423 for RYR2.
RYR2 | TKPDYSTSHSARLTEDVLADDRDDYDFLMQ>T<-STYYYSVRIFPGQEPANVWVGWITSDFHQ | 1452 |
RYR1 | MTQPPATPTLPRLPHDVVPADNRDDPEIIL>N<TTTYYYSVRVFAGQEPSCVWAGWVTPDYHQ | 1458 |
RYR3 | ---------SPCLDSEAFQKRKQMQEILSH>T<TTQCYYAIRIFAGQDPSCVWVGWVTPDYHL | 1354 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1423M | c.4268C>T | Putative Benign | SIFT: tolerated Polyphen: possibly damaging |