No paralogue variants have been mapped to residue 2227 for RYR1.
RYR1 | LMRALGMHETVMEVMVNVLGGGESKEIRFP>K<MVTSCCRFLCYFCRISRQNQRSMFDHLSYL | 2257 |
RYR2 | LMRALGMHETVMEVMVNVLGGGESKEITFP>K<MVANCCRFLCYFCRISRQNQKAMFDHLSYL | 2221 |
RYR3 | LMRVLGMHETVMEVMVNVLGT-EKSQIAFP>K<MVASCCRFLCYFCRISRQNQKAMFEHLSYL | 2118 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K2227E | c.6679A>G | Putative Benign | SIFT: Polyphen: |