Table 2.
Computational predictions of HARS variant pathogenicity
| Variant | MUPro1 | PolyPhen2 | PolyPhen23 | SIFT4 |
|---|---|---|---|---|
| p.Ala5Glu | 0.20 | 0.34 | 0.00 | 1.00 |
| p.Arg137Gln | −1.00† | 2.46† | 1.00† | 0.00† |
| p.Gly205Asp | 0.00 | 0.71 | 0.28 | 0.00† |
| p.Val238Ala | −1.00† | 1.90† | 0.78 | 0.00† |
| p.Lys376Arg | 0.48 | 1.41 | 0.01 | 0.31 |
| p.Pro505Ser | −.99† | 2.01† | 0.31 | 0.00† |
MUPro scores <0 indicate a decrease in protein stability
PolyPhen scores ≥1.5 indicate a prediction of “pathogenic”
PolyPhen2 scores ~1 indicate a prediction of “pathogenic”
SIFT scores ≤0.05 indicate a prediction of “pathogenic”
Denotes a “pathogenic” prediction