No paralogue variants have been mapped to residue 3547 for RYR2.
RYR2 | KLE-DPAIRWQMALYKDLPNRTDDTSDPEK>T<VERVLDIANVLFHLEQKSKRVGRRHYCL-V | 3576 |
RYR1 | KVEGSPSLRWQMALYRGVPGREEDADDPEK>I<VRRV-------------QEVSAVLYYLDQT | 3609 |
RYR3 | KSD-DPAVKWQLNLYKDVLK-SEEPFNPEK>T<VERV-------------QRISAAVFHLEQV | 3464 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T3547M | c.10640C>T | Putative Benign | SIFT: tolerated Polyphen: benign | ||
p.T3547R | c.10640C>G | Putative Benign | SIFT: Polyphen: |