Table 1.
Distribution of disease causing missense mutations in human dysferlin. The affected by missense mutations residues were identified in UMD-DYSFv1-4 dataset [179].
| Domain | Amino acids 1 | Mutations 2 | % Mutations 3 |
|---|---|---|---|
| C2A | 101 | 3 | 3.0 |
| C2A-C2B ICR | 121 | 6 | 5.0 |
| C2B | 96 | 12 | 12.5 |
| FerI | 71 | 4 | 5.6 |
| C2C | 114 | 9 | 7.9 |
| C2C-FerA ICR | 200 | 7 | 3.5 |
| FerA | 65 | 1 | 1.5 |
| FerB | 74 | 4 | 5.4 |
| DysF | 227 | 21 | 9.3 |
| C2D | 108 | 2 | 1.9 |
| C2D-C2E ICR | 77 | 2 | 2.6 |
| C2E | 99 | 7 | 7.1 |
| C2E-C2F ICR | 142 | 7 | 4.9 |
| C2F | 99 | 6 | 6.1 |
| C2F-C2G ICR | 134 | 12 | 9.0 |
| C2G | 129 | 12 | 9.3 |
| C2G-TM ICR | 104 | 6 | 5.8 |
| TM | 23 | 1 | 4.4 |
| Extracellular domain | 15 | 2 | 13.3 |
1 Total number of amino acid residues in the domain. 2 Number of known amino acid residues found with missense mutations. 3 Percent of amino acid residues found with missense mutations. 4 Interconnecting region.