For each amino acids are displayed the number of residues in the DMD protein and its frequency; the expected number of mutations if events were randomly distributed and the observed number of mutations affecting these residues. A click on the an amino acid gives access to a detailed table of substitutions and other mutations.
A click on the "Detailed view of mutations at the AA level" will display a summary table of all events.
| Mutations involving Amino Acid: Leu |
| New Amino Acid | Number of residues (positions) | Number of mutations |
|---|---|---|
| Deletion | 38 (140, 169, 412, 500, 620, 819, 826, 853, 880, 939, 1050, 1152, 1240, 1243, 1508, 1512, 1548, 1780, 1793, 1794, 2351, 2416, 2431, 2467, 2596, 2626, 2690, 2696, 2755, 2884, 2918, 2936, 2948, 2971, 3124, 3376, 3485, 3485) | 48 |
| Insertion | 20 (44, 62, 400, 402, 808, 853, 880, 1036, 1243, 1451, 1674, 1900, 2185, 2337, 2427, 2696, 2724, 3053, 3485, 3485) | 23 |
| Leu | 1 (2256) | 2 |
| Phe | 1 (1344) | 1 |
| Pro | 1 (116) | 1 |
| Stop | 16 (229, 322, 445, 606, 654, 759, 853, 890, 1674, 1720, 1752, 2220, 2220, 2337, 2579, 2579) | 19 |