No paralogue variants have been mapped to residue 1705 for RYR2.
RYR2 | ALCSHVDEPQLLYAIENKYMPGLLRAGYYD>L<LIDIHLSSYATARLMMNNEYIVPMTEETKS | 1735 |
RYR1 | ALCSHVDQAQLLHALEDAHLPGPLRAGYYD>L<LISIHLESACRSRRSMLSEYIVPLTPETRA | 1743 |
RYR3 | ALCSHVDLSQLFYAIDNKYLPGLLRSGFYD>L<LISIHLASAKERKLMMKNEYIIPITSTTRN | 1639 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1705V | c.5113C>G | Putative Benign | SIFT: Polyphen: |