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: Glu |
| New Amino Acid | Number of residues (positions) | Number of mutations |
|---|---|---|
| Asp | 1 (577) | 1 |
| Deletion | 26 (6, 323, 338, 359, 373, 531, 761, 761, 1182, 1239, 1376, 1633, 1636, 1706, 1714, 1714, 1795, 1924, 1934, 2327, 2563, 2590, 2685, 3090, 3288, 3367) | 33 |
| Insertion | 10 (65, 323, 416, 432, 476, 579, 692, 1668, 2941, 3544) | 13 |
| Lys | 3 (440, 753, 2890) | 4 |
| Stop | 63 (252, 264, 326, 350, 373, 459, 475, 476, 531, 611, 683, 692, 761, 767, 772, 789, 814, 862, 931, 946, 1005, 1021, 1026, 1066, 1074, 1133, 1150, 1157, 1179, 1186, 1205, 1376, 1514, 1543, 1579, 1593, 1682, 1723, 1826, 1845, 1874, 1924, 1946, 1958, 1960, 2122, 2147, 2167, 2168, 2248, 2317, 2460, 2566, 2685, 2726, 2767, 2827, 2854, 2910, 2931, 2976, 3250, 3358) | 81 |