No paralogue variants have been mapped to residue 1724 for RYR1.
RYR1 | LHALEDAHLPGPLRAGYYDLLISIHLESAC>R<SRRSMLSEYIVPLTPETRAITLFPPGRSTE | 1754 |
RYR2 | LYAIENKYMPGLLRAGYYDLLIDIHLSSYA>T<ARLMMNNEYIVPMTEETKSITLFPD----- | 1741 |
RYR3 | FYAIDNKYLPGLLRSGFYDLLISIHLASAK>E<RKLMMKNEYIIPITSTTRNIRLFPD----- | 1645 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1724H | c.5171G>A | Putative Benign | rs372800648 | SIFT: tolerated Polyphen: probably damaging | |
p.R1724C | c.5170C>T | Putative Benign | SIFT: Polyphen: |