No paralogue variants have been mapped to residue 1185 for RYR1.
RYR1 | TENTIIFTLNGEVLMSDSGSETAFREIEIG>D<GFLPVCSLGPGQVGHLNLGQDVSSLRFFAI | 1215 |
RYR2 | NEHTMMFTLNGEILLDDSGSELAFKDFDVG>D<GFIPVCSLGVAQVGRMNFGKDVSTLKYFTI | 1229 |
RYR3 | DDASMIFTLNGELLITNKGSELAFADYEIE>N<GFVPICCLGLSQIGRMNLGTDASTFKFYTM | 1215 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1185Y | c.3553G>T | Putative Benign | SIFT: Polyphen: |