No paralogue variants have been mapped to residue 1199 for RYR2.
RYR2 | NEHTMMFTLNGEILLDDSGSELAFKDFDVG>D<GFIPVCSLGVAQVGRMNFGKDVSTLKYFTI | 1229 |
RYR1 | TENTIIFTLNGEVLMSDSGSETAFREIEIG>D<GFLPVCSLGPGQVGHLNLGQDVSSLRFFAI | 1215 |
RYR3 | DDASMIFTLNGELLITNKGSELAFADYEIE>N<GFVPICCLGLSQIGRMNLGTDASTFKFYTM | 1215 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1199G | c.3596A>G | Putative Benign | rs149760466 | SIFT: tolerated Polyphen: possibly damaging | |
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 | |||
p.D1199N | c.3595G>A | Putative Benign | SIFT: Polyphen: |