No paralogue variants have been mapped to residue 2781 for RYR2.
RYR2 | SKVQPLMKPYKLLSEKEKEIYRWPIKESLK>T<MLAWGWRIERTREGDSMALYNRTRRISQTS | 2811 |
RYR1 | LKTHPMLRPYKTFSEKDKEIYRWPIKESLK>A<MIAWEWTIEKAREGEEEK--TEKKKTRKIS | 2843 |
RYR3 | VKTHPLIRPFKTLTEKEKEIYRWPARESLK>T<MLAVGWTVERTKEGEALVQQRENEKLRSVS | 2708 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T2781I | c.8342C>T | Putative Benign | rs369963696 | SIFT: deleterious Polyphen: probably damaging | |
p.Thr2781Ser | c.8342C>G | Unknown | SIFT: Polyphen: |