No paralogue variants have been mapped to residue 1717 for RYR2.
RYR2 | YAIENKYMPGLLRAGYYDLLIDIHLSSYAT>A<RLMMNNEYIVPMTEETKSITLFPD------ | 1741 |
RYR1 | HALEDAHLPGPLRAGYYDLLISIHLESACR>S<RRSMLSEYIVPLTPETRAITLFPPGRSTEN | 1755 |
RYR3 | YAIDNKYLPGLLRSGFYDLLISIHLASAKE>R<KLMMKNEYIIPITSTTRNIRLFPD------ | 1645 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1717S | c.5149G>T | Putative Benign | SIFT: tolerated Polyphen: possibly damaging |