No paralogue variants have been mapped to residue 1709 for RYR2.
RYR2 | HVDEPQLLYAIENKYMPGLLRAGYYDLLID>I<HLSSYATARLMMNNEYIVPMTEETKSITLF | 1739 |
RYR1 | HVDQAQLLHALEDAHLPGPLRAGYYDLLIS>I<HLESACRSRRSMLSEYIVPLTPETRAITLF | 1747 |
RYR3 | HVDLSQLFYAIDNKYLPGLLRSGFYDLLIS>I<HLASAKERKLMMKNEYIIPITSTTRNIRLF | 1643 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I1709L | c.5125A>C | Putative Benign | SIFT: Polyphen: |