No paralogue variants have been mapped to residue 1733 for RYR1.
RYR1 | PGPLRAGYYDLLISIHLESACRSRRSMLSE>Y<IVPLTPETRAITLFPPGRSTENGHPRHGLP | 1763 |
RYR2 | PGLLRAGYYDLLIDIHLSSYATARLMMNNE>Y<IVPMTEETKSITLFPD------ENKKHGLP | 1749 |
RYR3 | PGLLRSGFYDLLISIHLASAKERKLMMKNE>Y<IIPITSTTRNIRLFPD------ESKRHGLP | 1653 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y1733S | c.5198A>C | Putative Benign | SIFT: deleterious Polyphen: benign | ||
p.Y1733N | c.5197T>A | Putative Benign | SIFT: Polyphen: |