No paralogue variants have been mapped to residue 1190 for RYR1.
RYR1 | IFTLNGEVLMSDSGSETAFREIEIGDGFLP>V<CSLGPGQVGHLNLGQDVSSLRFFAICGLQE | 1220 |
RYR2 | MFTLNGEILLDDSGSELAFKDFDVGDGFIP>V<CSLGVAQVGRMNFGKDVSTLKYFTICGLQE | 1234 |
RYR3 | IFTLNGELLITNKGSELAFADYEIENGFVP>I<CCLGLSQIGRMNLGTDASTFKFYTMCGLQE | 1220 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1190I | c.3568G>A | Putative Benign | SIFT: Polyphen: |