No paralogue variants have been mapped to residue 1754 for RYR2.
RYR2 | TEETKSITLFPD------ENKKHGLPGIGL>S<TSLRPRMQFSSPSFVSI------SNECYQY | 1778 |
RYR1 | TPETRAITLFPPGRSTENGHPRHGLPGVGV>T<TSLRPPHHFSPPCFVAALPAAGAAEAPARL | 1798 |
RYR3 | TSTTRNIRLFPD------ESKRHGLPGVGL>R<TCLKPGFRFSTPCFVVT------GEDHQKQ | 1682 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1754T | c.5261G>C | Putative Benign | SIFT: Polyphen: | ||
Reports | Unknown | The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 2014 Aug;16(8):601-8. 24503780 |