No paralogue variants have been mapped to residue 1727 for RYR1.
RYR1 | LEDAHLPGPLRAGYYDLLISIHLESACRSR>R<SMLSEYIVPLTPETRAITLFPPGRSTENGH | 1757 |
RYR2 | IENKYMPGLLRAGYYDLLIDIHLSSYATAR>L<MMNNEYIVPMTEETKSITLFPD------EN | 1743 |
RYR3 | IDNKYLPGLLRSGFYDLLISIHLASAKERK>L<MMKNEYIIPITSTTRNIRLFPD------ES | 1647 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1727C | c.5179C>T | Putative Benign | SIFT: Polyphen: | ||
p.R1727H | c.5180G>A | Putative Benign | SIFT: Polyphen: |