No paralogue variants have been mapped to residue 1760 for RYR1.
RYR1 | LSEYIVPLTPETRAITLFPPGRSTENGHPR>H<GLPGVGVTTSLRPPHHFSPPCFVAALPAAG | 1790 |
RYR2 | NNEYIVPMTEETKSITLFPD------ENKK>H<GLPGIGLSTSLRPRMQFSSPSFVSI----- | 1771 |
RYR3 | KNEYIIPITSTTRNIRLFPD------ESKR>H<GLPGVGLRTCLKPGFRFSTPCFVVT----- | 1675 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H1760Y | c.5278C>T | Putative Benign | SIFT: Polyphen: | ||
p.H1760R | c.5279A>G | Putative Benign | SIFT: Polyphen: | ||
p.H1760L | c.5279A>T | Putative Benign | SIFT: Polyphen: |