No paralogue variants have been mapped to residue 694 for RYR2.
RYR2 | SEGSAQYKKWYYELMVDHTEPFVTAEATHL>R<VGWASTEGYSPYPGGGEEWGGNGVGDDLFS | 724 |
RYR1 | AEGTTQYSKWYFEVMVDEVTPFLTAQATHL>R<VGWALTEGYTPYPGAGEGWGGNGVGDDLYS | 712 |
RYR3 | AEGSAQYKKWYFELIIDQVDPFLTAEPTHL>R<VGWASSSGYAPYPGGGEGWGGNGVGDDLYS | 711 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R694Q | c.2081G>A | Benign | rs190787113 | SIFT: deleterious Polyphen: probably damaging |