No paralogue variants have been mapped to residue 3336 for RYR2.
RYR2 | IINKVKPQLLKTHFLPLMEKLKKKAATVVS>E<EDHLKAEARGDMSEAELLILDEFTTLARDL | 3366 |
RYR1 | IVSRARPELLQSHFIPTIGRLRKRAGKVVS>E<EEQLRLEAKAEAQEGELLVRDEFSVLCRDL | 3405 |
RYR3 | IISKARPDLLRSHFIPTLEKLKKKAVKTVQ>E<EEQLKADGKGDTQEAELLILDEFAVLCRDL | 3262 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3336A | c.10007A>C | Putative Benign | SIFT: Polyphen: |