No paralogue variants have been mapped to residue 680 for RYR1.
RYR1 | GRAEGTTQYSKWYFEVMVDEVTPFLTAQAT>H<LRVGWALTEGYTPYPGAGEGWGGNGVGDDL | 710 |
RYR2 | GVSEGSAQYKKWYYELMVDHTEPFVTAEAT>H<LRVGWASTEGYSPYPGGGEEWGGNGVGDDL | 722 |
RYR3 | GVAEGSAQYKKWYFELIIDQVDPFLTAEPT>H<LRVGWASSSGYAPYPGGGEGWGGNGVGDDL | 709 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H680Y | c.2038C>T | Putative Benign | SIFT: Polyphen: |