No paralogue variants have been mapped to residue 678 for RYR1.
RYR1 | FVGRAEGTTQYSKWYFEVMVDEVTPFLTAQ>A<THLRVGWALTEGYTPYPGAGEGWGGNGVGD | 708 |
RYR2 | FLGVSEGSAQYKKWYYELMVDHTEPFVTAE>A<THLRVGWASTEGYSPYPGGGEEWGGNGVGD | 720 |
RYR3 | FLGVAEGSAQYKKWYFELIIDQVDPFLTAE>P<THLRVGWASSSGYAPYPGGGEGWGGNGVGD | 707 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A678T | c.2032G>A | Putative Benign | SIFT: Polyphen: |