Table 2.
Summarized effect of missense changes in MYO7A domains
| HGMD | ClinVar | ||||||
|---|---|---|---|---|---|---|---|
| Domain | Location in domain | Number of missense mutations | Average unfolding propensity | Average free energy change ΔΔG, kcal/mol | Number of missense mutations | Average unfolding propensity | Average free energy change ΔΔG, kcal/mol |
| Motor domain (excluding ATP-binding region) | 65-741 | 75 | 0.75 | 2.37 | 166 | 0.74 | 2.83 |
| ATP-binding motif | 158-165 | 4 | 0.825 | 2.27 | 3 | 0.62 | 0.52 |
| Actin-binding | 632-639 | none | - | - | 4 | 0.62 | 0.39 |
| IQ1 | 745-765 | 2 | 0.8 | 1.49 | 6 | 0.75 | 1.29 |
| IQ2 | 768-788 | 1 | 0.37 | −0.32 | 4 | 0.72 | 1.14 |
| IQ3 | 791-811 | none | - | - | 8 | 0.7 | 1.31 |
| IQ4 | 814-834 | 1 | 0.97 | 2.02 | 10 | 0.76 | 1.08 |
| IQ5 | 837-857 | 2 | 0.53 | 0.2 | 4 | 0.72 | 1.8 |
| coiled coil (excluding single α-helix) | 858-1016 | 3 | 0.89 | 2.06 | 8 | 0.72 | 1.3 |
| single α-helix | 858-935 | 2 | 0.97 | 2.27 | 21 | 0.68 | 1.8 |
| MyTH-1 | 1017-1253 | 21 | 0.7 | 0.99 | 56 | 0.7 | 1.34 |
| FERM-1 | 1258-1602 | 17 | 0.75 | 1.21 | 77 | 0.74 | 1.41 |
| SH3 | 1603-1672 | 4 | 0.63 | 0.65 | 16 | 0.61 | 0.4 |
| MyTH-2 | 1747-1896 | 13 | 0.82 | 3.1 | 42 | 0.71 | 2.25 |
| FERM-2 | 1902-2205 | 24 | 0.64 | 0.97 | 68 | 0.72 | 1.98 |