No paralogue variants have been mapped to residue 3591 for RYR1.
RYR1 | GKVEGSPSLRWQMALYRGVPGREEDADDPE>K<IVRRV-------------QEVSAVLYYLDQ | 3608 |
RYR2 | GKLE-DPAIRWQMALYKDLPNRTDDTSDPE>K<TVERVLDIANVLFHLEQKSKRVGRRHYCL- | 3575 |
RYR3 | EKSD-DPAVKWQLNLYKDVLK-SEEPFNPE>K<TVERV-------------QRISAAVFHLEQ | 3463 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K3591E | c.10771A>G | Putative Benign | SIFT: Polyphen: |