No paralogue variants have been mapped to residue 3590 for RYR1.
RYR1 | QGKVEGSPSLRWQMALYRGVPGREEDADDP>E<KIVRRV-------------QEVSAVLYYLD | 3607 |
RYR2 | QGKLE-DPAIRWQMALYKDLPNRTDDTSDP>E<KTVERVLDIANVLFHLEQKSKRVGRRHYCL | 3575 |
RYR3 | QEKSD-DPAVKWQLNLYKDVLK-SEEPFNP>E<KTVERV-------------QRISAAVFHLE | 3462 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3590K | c.10768G>A | Putative Benign | SIFT: Polyphen: |