No paralogue variants have been mapped to residue 3593 for RYR2.
RYR2 | KSKRVGRRHYCL-VEHPQRSKKAVWHKLLS>K<QRKRAVVACFRMAPLYNLPRHRAVNLFLQG | 3623 |
RYR1 | -QEVSAVLYYLDQTEHPYKSKKAVWHKLLS>K<QRRRAVVACFRMTPLYNLPTHRACNMFLES | 3656 |
RYR3 | -QRISAAVFHLEQVEQPLRSKKAVWHKLLS>K<QRKRAVVACFRMAPLYNLPRHRSINLFLHG | 3511 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K3593N | c.10779G>C | Putative Benign | SIFT: deleterious Polyphen: possibly damaging |