No paralogue variants have been mapped to residue 2230 for RYR1.
RYR1 | ALGMHETVMEVMVNVLGGGESKEIRFPKMV>T<SCCRFLCYFCRISRQNQRSMFDHLSYLLEN | 2260 |
RYR2 | ALGMHETVMEVMVNVLGGGESKEITFPKMV>A<NCCRFLCYFCRISRQNQKAMFDHLSYLLEN | 2224 |
RYR3 | VLGMHETVMEVMVNVLGT-EKSQIAFPKMV>A<SCCRFLCYFCRISRQNQKAMFEHLSYLLEN | 2121 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T2230S | c.6688A>T | Putative Benign | rs200630616 | SIFT: Polyphen: benign |