No paralogue variants have been mapped to residue 3343 for RYR2.
RYR2 | QLLKTHFLPLMEKLKKKAATVVSEEDHLKA>E<ARGDMSEAELLILDEFTTLARDLYAFYPLL | 3373 |
RYR1 | ELLQSHFIPTIGRLRKRAGKVVSEEEQLRL>E<AKAEAQEGELLVRDEFSVLCRDLYALYPLL | 3412 |
RYR3 | DLLRSHFIPTLEKLKKKAVKTVQEEEQLKA>D<GKGDTQEAELLILDEFAVLCRDLYAFYPML | 3269 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3343Q | c.10027G>C | Putative Benign | SIFT: Polyphen: |