No paralogue variants have been mapped to residue 3348 for RYR2.
RYR2 | HFLPLMEKLKKKAATVVSEEDHLKAEARGD>M<SEAELLILDEFTTLARDLYAFYPLLIRFVD | 3378 |
RYR1 | HFIPTIGRLRKRAGKVVSEEEQLRLEAKAE>A<QEGELLVRDEFSVLCRDLYALYPLLIRYVD | 3417 |
RYR3 | HFIPTLEKLKKKAVKTVQEEEQLKADGKGD>T<QEAELLILDEFAVLCRDLYAFYPMLIRYVD | 3274 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Met3348Arg | c.10043T>G | Unknown | SIFT: Polyphen: |