No paralogue variants have been mapped to residue 1758 for RYR1.
RYR1 | SMLSEYIVPLTPETRAITLFPPGRSTENGH>P<RHGLPGVGVTTSLRPPHHFSPPCFVAALPA | 1788 |
RYR2 | MMNNEYIVPMTEETKSITLFPD------EN>K<KHGLPGIGLSTSLRPRMQFSSPSFVSI--- | 1771 |
RYR3 | MMKNEYIIPITSTTRNIRLFPD------ES>K<RHGLPGVGLRTCLKPGFRFSTPCFVVT--- | 1675 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1758L | c.5273C>T | Putative Benign | rs371317448 | SIFT: tolerated Polyphen: benign |