No paralogue variants have been mapped to residue 3593 for RYR1.
RYR1 | VEGSPSLRWQMALYRGVPGREEDADDPEKI>V<RRV-------------QEVSAVLYYLDQTE | 3610 |
RYR2 | LE-DPAIRWQMALYKDLPNRTDDTSDPEKT>V<ERVLDIANVLFHLEQKSKRVGRRHYCL-VE | 3577 |
RYR3 | SD-DPAVKWQLNLYKDVLK-SEEPFNPEKT>V<ERV-------------QRISAAVFHLEQVE | 3465 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V3593E | c.10778T>A | Putative Benign | SIFT: Polyphen: |