No paralogue variants have been mapped to residue 1719 for RYR1.
RYR1 | DQAQLLHALEDAHLPGPLRAGYYDLLISIH>L<ESACRSRRSMLSEYIVPLTPETRAITLFPP | 1749 |
RYR2 | DEPQLLYAIENKYMPGLLRAGYYDLLIDIH>L<SSYATARLMMNNEYIVPMTEETKSITLFPD | 1741 |
RYR3 | DLSQLFYAIDNKYLPGLLRSGFYDLLISIH>L<ASAKERKLMMKNEYIIPITSTTRNIRLFPD | 1645 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1719I | c.5155C>A | Putative Benign | SIFT: Polyphen: |