Table 1.
Sequence position | cDNA position | Splice site type | Motif | New potential splice site | Consensus value (0–100) |
---|---|---|---|---|---|
(A) Normal intron 44 region around cryptic pseudoexon 44a | |||||
30 | 28 | Donor | GGAGTGAGG | GGAgtgagg | 79.71 |
35 | 33 | Donor | GAGGTGGCG | GAGgtggcg | 74.79 |
56 | 54 | Donor | ACTGTAACC | ACTgtaacc | 69.24 |
76 | 74 | Donor | CAGGTTCGA | CAGgttcga | 83.84 |
82 | 80 | Donor | CGAgtgatt | CGAgtgatt | 71.09 |
108 | 25 | Donor | gaagtacct | GAAgtacct | 66.84 |
124 | 41 | Donor | taggtgccc | TAGgtgccc | 73.87 |
(B) Patient intron 44 region around cryptic pseudoexon 44a | |||||
30 | 28 | Donor | GGAGTGAGG | GGAgtgagg | 79.71 |
35 | 33 | Donor | GAGGTGGCG | GAGgtggcg | 74.79 |
56 | 54 | Donor | ACTGTAACC | ACTgtaacc | 69.24 |
76 | 74 | Donor | CAGGTTCGA | CAGgttcga | 83.84 |
82 | 80 | Donor | CGAgtaagt | CGAgtaagt | 84.57 |
86 | 3 | Donor | taagtatga | TAAgtatga | 76.3 |
113 | 30 | Donor | ttggtactt | TTGgtactt | 72.15 |
135 | 52 | Donor | caggttgaa | CAGgttgaa | 72.14 |
141 | 58 | Donor | gaagtgaca | GAAgtgaca | 72.15 |
164 | 81 | Donor | taagttaaa | TAAgttaaa | 67.92 |
DMD, dystrophin gene.