No paralogue variants have been mapped to residue 1754 for RYR1.
RYR1 | RSRRSMLSEYIVPLTPETRAITLFPPGRST>E<NGHPRHGLPGVGVTTSLRPPHHFSPPCFVA | 1784 |
RYR2 | TARLMMNNEYIVPMTEETKSITLFPD---->-<-ENKKHGLPGIGLSTSLRPRMQFSSPSFVS | 1770 |
RYR3 | ERKLMMKNEYIIPITSTTRNIRLFPD---->-<-ESKRHGLPGVGLRTCLKPGFRFSTPCFVV | 1674 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1754A | c.5261A>C | Putative Benign | rs368320104 | SIFT: tolerated Polyphen: benign |