No paralogue variants have been mapped to residue 4019 for RYR2.
RYR2 | NVVNGTIGKQMVDMLVESSNNVEMILKFFD>M<FLKLKDLTSSDTFKEYDPDGKGVISKRDFH | 4049 |
RYR1 | NVVNGMIARQMVDMLVESSSNVEMILKFFD>M<FLKLKDIVGSEAFQDYVTDPRGLISKKDFQ | 4093 |
RYR3 | NVVNGTIGKQMVDTLVESSTNVEMILKFFD>M<FLKLKDLTSSDTFKEYDPDGKGIISKKEFQ | 3945 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M4019I | c.12057G>A | Putative Benign | SIFT: Polyphen: | ||
p.Met4019Thr | c.12056T>C | Unknown | SIFT: Polyphen: |