No paralogue variants have been mapped to residue 682 for RYR2.
RYR2 | VSSMRPNIFLGVSEGSAQYKKWYYELMVDH>T<EPFVTAEATHLRVGWASTEGYSPYPGGGEE | 712 |
RYR1 | VTSIRPNIFVGRAEGTTQYSKWYFEVMVDE>V<TPFLTAQATHLRVGWALTEGYTPYPGAGEG | 700 |
RYR3 | VTSIRPNIFLGVAEGSAQYKKWYFELIIDQ>V<DPFLTAEPTHLRVGWASSSGYAPYPGGGEG | 699 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T682R | c.2045C>G | Putative Benign | rs377285489 | SIFT: deleterious Polyphen: benign |