No paralogue variants have been mapped to residue 2088 for RYR1.
RYR1 | TLGSRLMSLLEKVRLVKKKEEKPEEERSAE>E<SKPRSLQELVSHMVVRWAQEDFVQSPELVR | 2118 |
RYR2 | TIRGRLLSLVEKVTYLKKKQA--EKPVESD>S<KKSSTLQQLISETMVRWAQESVIEDPELVR | 2082 |
RYR3 | SWTGKLCALVYKIKGPPKPEK--EQPTEEE>E<RCPTTLKELISQTMICWAQEDQIQDSELVR | 1980 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2088K | c.6262G>A | Putative Benign | SIFT: Polyphen: |