No paralogue variants have been mapped to residue 3338 for RYR2.
RYR2 | NKVKPQLLKTHFLPLMEKLKKKAATVVSEE>D<HLKAEARGDMSEAELLILDEFTTLARDLYA | 3368 |
RYR1 | SRARPELLQSHFIPTIGRLRKRAGKVVSEE>E<QLRLEAKAEAQEGELLVRDEFSVLCRDLYA | 3407 |
RYR3 | SKARPDLLRSHFIPTLEKLKKKAVKTVQEE>E<QLKADGKGDTQEAELLILDEFAVLCRDLYA | 3264 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D3338N | c.10012G>A | Putative Benign | rs373103377 | SIFT: deleterious Polyphen: benign | |
p.D3338E | c.10014C>G | Putative Benign | SIFT: Polyphen: |