Table 3.
Effects of variants on the apparent relative stability (∆∆Gfapp) and affinity (∆∆Gbapp) of OPA1-MGD dimer in hetero- and homozygosis. The largest positive contributions to ∆∆Gfapp and ∆∆Gbapp are reported together with the energetic term they represent (47). Mutations in italics have been described previously (39)
| Variant | ∆∆Gfapp (kcal/mol) | Largest contribution (kcal/mol) | ∆∆Gbapp (kcal/mol) | Largest contribution (kcal/mol) |
|---|---|---|---|---|
| Heterozygosis | ||||
| p.(D438A) | 11.34 | 40.61 (Electrostatic) | 6.50 | 17.62 (Electrostatic) |
| p.(D438N) | 2.36 | 5.89 (H-bond) | 9.13 | 19.86 (Electrostatic) |
| p.(D438E) | --1.43 | 20.20 (Electrostatic) | 0.31 | 5.69 (Electrostatic) |
| p.(D438G) | 16.71 | 40.87 (Electrostatic) | 6.81 | 17.47 (Electrostatic) |
| p.(D438H) | 50.07 | 35.67 (Electrostatic) | 8.59 | 16.27 (Electrostatic) |
| p.(D438Y) | 96.25 | 62.32 (Van der Waals) | 13.85 | 18.10 (Electrostatic) |
| p.(D438V) | 2.03 | 46.82 (Electrostatic) | 5.77 | 17.77 (Electrostatic) |
| p.(E320A) | 7.99 | 31.58 (Solvation) | 8.12 | 14.03 (Electrostatic) |
| p.(T407A) | 9.63 | 2.48 (Self-contact) | 10.65 | 4.21 (Lipophilic) |
| p.(D442A) | 7.25 | 42.52 (Electrostatic) | 1.67 | 5.09 (Van der Waals) |
| p.(E444A) | 16.21 | 31.32 (Electrostatic) | 8.08 | 10.32 (Solvation) |
| p.(R445A) | 41.48 | 22.09 (Solvation) | 29.59 | 19.41 (Solvation) |
| Homozygosis | ||||
| p.(D438A) | 23.73 | 96.16 (Electrostatic) | 14.08 | 50.18 (Electrostatic) |
| p.(D438N) | 5.64 | 16.19 (Electrostatic) | 19.24 | 54.18 (Electrostatic) |
| p.(D438E) | --3.99 | 41.55 (Electrostatic) | --0.41 | 12.53 (Electrostatic) |
| p.(D438G) | 34.56 | 96.60 (Electrostatic) | 14.79 | 49.79 (Electrostatic) |
| p.(D438H) | 109.36 | 94.98 (Electrostatic) | 16.86 | 58.69 (Electrostatic) |
| p.(D438Y) | 151.42 | 112.36 (Van der Waals) | 22.59 | 48.69 (Electrostatic) |
| p.(D438V) | 5.43 | 108.73 (Electrostatic) | 12.94 | 50.63 (Electrostatic) |
| p.(E320A) | 16.12 | 63.17 (Solvation) | 16.38 | 31.93 (Electrostatic) |
| p.(T407A) | 19.25 | 4.97 (Self-contact) | 21.27 | 8.40 (Lipophilic) |
| p.(D442A) | 14.90 | 85.06 (Electrostatic) | 3.73 | 10.16 (Van der Waals) |
| p.(E444A) | 32.63 | 62.63 (Electrostatic) | 16.37 | 15.52 (Solvation) |
| p.(R445A) | 83.09 | 44.08 (Solvation) | 59.28 | 19.55 (Van der Waals) |