No paralogue variants have been mapped to residue 4016 for RYR2.
RYR2 | LEGNVVNGTIGKQMVDMLVESSNNVEMILK>F<FDMFLKLKDLTSSDTFKEYDPDGKGVISKR | 4046 |
RYR1 | LEGNVVNGMIARQMVDMLVESSSNVEMILK>F<FDMFLKLKDIVGSEAFQDYVTDPRGLISKK | 4090 |
RYR3 | LEGNVVNGTIGKQMVDTLVESSTNVEMILK>F<FDMFLKLKDLTSSDTFKEYDPDGKGIISKK | 3942 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F4016Y | c.12047T>A | Putative Benign | rs375021201 | SIFT: tolerated Polyphen: probably damaging |