No paralogue variants have been mapped to residue 1718 for RYR2.
RYR2 | AIENKYMPGLLRAGYYDLLIDIHLSSYATA>R<LMMNNEYIVPMTEETKSITLFPD------E | 1742 |
RYR1 | ALEDAHLPGPLRAGYYDLLISIHLESACRS>R<RSMLSEYIVPLTPETRAITLFPPGRSTENG | 1756 |
RYR3 | AIDNKYLPGLLRSGFYDLLISIHLASAKER>K<LMMKNEYIIPITSTTRNIRLFPD------E | 1646 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1718S | c.5154G>C | Putative Benign | SIFT: Polyphen: | ||
p.R1718S | c.5154G>T | Putative Benign | SIFT: Polyphen: |