Table 2 Structural modeling results for missense variants in the FHA domain.
p-codea | p.(Gln50Glu) | p.(Val51Leu) | p.(Ala55Ser) | p.(Gln66Glu) | p.(Pro101Leu) | p.(Leu104Pro) |
|---|---|---|---|---|---|---|
Case or reference | PMID: 31167812 | P4b | PMID: 24965255 | PMID: 30956058 | P1 and P2 | P3 |
CADD PHRED score v1.6 | 26.5 | 22.7 | 25.0 | 26.0 | 27.9 | 28.5 |
Missense3D | Replaces a buried uncharged residue with a charged residue | No structural damage | No structural damage | Replaces a buried uncharged residue with a charged residue | Local steric clash alert | Introduces a buried proline in the core of the protein domain |
DynaMut | Destabilizing (ΔΔG: –0.362 kcal/mol) Increase of molecule flexibility (ΔΔSVib ENCoM: 0.357 kcal/mol*K) | Destabilizing (ΔΔG: –0.670 kcal/mol) Little decrease of molecule flexibility (ΔΔSVib ENCoM: –0.591 kcal/mol*K) | Stabilizing (ΔΔG: 0.989 kcal/mol) Little decrease of molecule flexibility (ΔΔSVib ENCoM: –0.345 kcal/mol*K). | Stabilizing (ΔΔG: 0.294 kcal/mol) Very little increase of molecule flexibility (ΔΔSVib ENCoM: 0.084 kcal/mol*K) | Stabilizing (ΔΔG: 1.510 kcal/mol) Slightly decrease of molecule flexibility (ΔΔSVib ENCoM: –0.287 kcal/mol*K) | Destabilizing (ΔΔG: –1.608 kcal/mol) Increase of molecule flexibility (ΔΔSVib ENCoM: 0.615 kcal/mol*K) |
