No paralogue variants have been mapped to residue 2051 for RYR2.
RYR2 | LTIRGRLLSLVEKVTYLKKKQA--EKPVES>D<SKKSSTLQQLISETMVRWAQESVIEDPELV | 2081 |
RYR1 | TTLGSRLMSLLEKVRLVKKKEEKPEEERSA>E<ESKPRSLQELVSHMVVRWAQEDFVQSPELV | 2117 |
RYR3 | TSWTGKLCALVYKIKGPPKPEK--EQPTEE>E<ERCPTTLKELISQTMICWAQEDQIQDSELV | 1979 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2051E | c.6153C>G | Putative Benign | SIFT: Polyphen: |