No paralogue variants have been mapped to residue 572 for RYR1.
RYR1 | NLDWLVSKLDRLEASSGILEVLYCVLIESP>E<VLNIIQENHIKSIISLLDKHGRNHKVLDVL | 602 |
RYR2 | SLDWLISRLERLEASSGILEVLHCVLVESP>E<ALNIIKEGHIKSIISLLDKHGRNHKVLDVL | 614 |
RYR3 | NLDWLISKLDRLESSSGILEVLHCILTESP>E<ALNLIAEGHIKSIISLLDKHGRNHKVLDIL | 601 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E572K | c.1714G>A | Putative Benign | SIFT: Polyphen: | ||
p.E572A | c.1715A>C | Putative Benign | SIFT: Polyphen: |