No paralogue variants have been mapped to residue 682 for RYR1.
RYR1 | AEGTTQYSKWYFEVMVDEVTPFLTAQATHL>R<VGWALTEGYTPYPGAGEGWGGNGVGDDLYS | 712 |
RYR2 | SEGSAQYKKWYYELMVDHTEPFVTAEATHL>R<VGWASTEGYSPYPGGGEEWGGNGVGDDLFS | 724 |
RYR3 | AEGSAQYKKWYFELIIDQVDPFLTAEPTHL>R<VGWASSSGYAPYPGGGEGWGGNGVGDDLYS | 711 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R682Q | c.2045G>A | Putative Benign | rs372513400 | SIFT: deleterious Polyphen: probably damaging | |
p.R682W | c.2044C>T | Putative Benign | SIFT: Polyphen: |