No paralogue variants have been mapped to residue 1383 for RYR2.
RYR2 | PEFNNHK--------------DYAQEKP-S>R<--LKQRFLLRRTKPDYSTSHSARLTEDVLA | 1411 |
RYR1 | APGGTPQAGGEAQPARAENEKDATTEKNKK>R<GFLFKAKKVAMMTQPPATPTLPRLPHDVVP | 1416 |
RYR3 | ------------------------------>-<--------------------SPCLDSEAFQ | 1312 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1383H | c.4148G>A | Putative Benign | SIFT: Polyphen: |