No paralogue variants have been mapped to residue 3375 for RYR1.
RYR1 | IVSRARPELLQSHFIPTIGRLRKRAGKVVS>E<EEQLRLEAKAEAQEGELLVRDEFSVLCRDL | 3405 |
RYR2 | IINKVKPQLLKTHFLPLMEKLKKKAATVVS>E<EDHLKAEARGDMSEAELLILDEFTTLARDL | 3366 |
RYR3 | IISKARPDLLRSHFIPTLEKLKKKAVKTVQ>E<EEQLKADGKGDTQEAELLILDEFAVLCRDL | 3262 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3375K | c.10123G>A | Putative Benign | SIFT: Polyphen: |