No paralogue variants have been mapped to residue 680 for RYR2.
RYR2 | NHVSSMRPNIFLGVSEGSAQYKKWYYELMV>D<HTEPFVTAEATHLRVGWASTEGYSPYPGGG | 710 |
RYR1 | NYVTSIRPNIFVGRAEGTTQYSKWYFEVMV>D<EVTPFLTAQATHLRVGWALTEGYTPYPGAG | 698 |
RYR3 | NDVTSIRPNIFLGVAEGSAQYKKWYFELII>D<QVDPFLTAEPTHLRVGWASSSGYAPYPGGG | 697 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D680G | c.2039A>G | Putative Benign | SIFT: Polyphen: | ||
p.Asp680Asn | c.2038G>A | Unknown | SIFT: Polyphen: |