No paralogue variants have been mapped to residue 1399 for RYR2.
RYR2 | ---DYAQEKP-SR--LKQRFLLRRTKPDYS>T<SHSARLTEDVLADDRDDYDFLMQT-STYYY | 1428 |
RYR1 | NEKDATTEKNKKRGFLFKAKKVAMMTQPPA>T<PTLPRLPHDVVPADNRDDPEIILNTTTYYY | 1434 |
RYR3 | ------------------------------>-<--SPCLDSEAFQKRKQMQEILSHTTTQCYY | 1330 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1399K | c.4196C>A | Putative Benign | rs75901196 | SIFT: tolerated Polyphen: benign |