No paralogue variants have been mapped to residue 1757 for RYR1.
RYR1 | RSMLSEYIVPLTPETRAITLFPPGRSTENG>H<PRHGLPGVGVTTSLRPPHHFSPPCFVAALP | 1787 |
RYR2 | LMMNNEYIVPMTEETKSITLFPD------E>N<KKHGLPGIGLSTSLRPRMQFSSPSFVSI-- | 1771 |
RYR3 | LMMKNEYIIPITSTTRNIRLFPD------E>S<KRHGLPGVGLRTCLKPGFRFSTPCFVVT-- | 1675 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H1757Q | c.5271C>A | Putative Benign | SIFT: Polyphen: |