No paralogue variants have been mapped to residue 1716 for RYR2.
RYR2 | LYAIENKYMPGLLRAGYYDLLIDIHLSSYA>T<ARLMMNNEYIVPMTEETKSITLFPD----- | 1741 |
RYR1 | LHALEDAHLPGPLRAGYYDLLISIHLESAC>R<SRRSMLSEYIVPLTPETRAITLFPPGRSTE | 1754 |
RYR3 | FYAIDNKYLPGLLRSGFYDLLISIHLASAK>E<RKLMMKNEYIIPITSTTRNIRLFPD----- | 1645 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1716S | c.5146A>T | Putative Benign | SIFT: Polyphen: |