Table 3.
Summary of skipping rate in minigene experiments
No. | Exon | Mutation | Amino acid change (predicted) | Phenotype | Dystrophin IHC | Skipping rate in minigene |
---|---|---|---|---|---|---|
1 | 9 | c.853G > T | p.Gly25* | DMD | Negative | 0 |
2 | 9 | c.857_858delAT | p.Tyr286* | DMD | Negative | 0 |
3 | 9 | c.883C > T | p.Arg295* | BMD | Positive | 0.15 |
4 | 9 | c.899_903CCTAC > TCTAG | p.Ala300_Tyr301delinsVal* | BMD | Positive | 0.08 |
5 | 25 | c.3295C > T | p.Gln1099* | BMD | Positive | 0.12 |
6 | 25 | c.3304C > T | p.Gln1102* | BMD | Positive | 0.98 |
7 | 25 | c.3337C > T | p.Gln1113* | BMD | Positive | 0.14 |
8 | 25 | c.3408_3409delinsGT | p.Gln1137* | DMD | Negative | 0.03 |
9 | 25 | c.3430C > T | p.Gln1144* | BMD | Positive | 0.73 |
10 | 27 | c.3734_3743delACTACCA | p.Asn1246Serfs*7 | DMD | Negative | 0.01 |
11 | 27 | c.3765dupT | p.Gly1256Trpfs*15 | DMD | Negative | 0.03 |
12 | 27 | c.3613G > T | p.Glu1205* | BMD | Positive | 0.65 |
13 | 31 | c.4294C > T | p.Gln1432* | BMD | Positive | 0.34 |
14 | 31 | c.4327C > T | p.Gln1443* | BMD | Positive | 0.3 |
15, 16 | 37 | c.5285delA | p.His1762Leufs*19 | IMD/DMD | Negative | 0.02 |
17 | 37 | c.5287C > T | p.Arg1763* | BMD | Positive | 0 |
18 | 38 | c.5364dupA | p.Asp1789Argfs*7 | IMD | Negative | 0 |
19 | 38 | c.5371C > T | p.Gln1791* | BMD | Positive | 0.09 |
20 | 38 | c.5407C > T | p.Gln1803* | BMD | Positive | 0.21 |
21 | 38 | c.5413dupG | p.Val1805Glyfs*10 | DMD | Negative | 0.04 |
22 | 41 | c.5758C > T | p.Gln1920* | DMD | Negative | 0.01 |
23 | 41 | c.5770G > T | p.Glu1924* | DMD | Negative | 0.01 |
24, 25 | 41 | c.5899C > T | p.Arg1967* | IMD/DMD | Positive | 0.13 |
26 | 72 | c.10279C > T | p.Gln3427* | BMD | Positive | 0 |
27 | 72 | c.10320 T > A | p.Tyr3440* | BMD | Negative | 0 |
28 | 74 | c.10402G > T | p.Glu3468* | BMD | Positive | 0.12 |
29 | 74 | c.10406dupA | p.His3469Glnfs*22 | DMD | Positive | 0 |
30 | 74 | c.10453_10454delCT | p.Leu3485Glufs*5 | BMD | Negative | 0.05 |
31 | 74 | c.10454delT | p.Leu3485Argfs*11 | DMD | Negative | 0.01 |
32 | 74 | c.10495G > T | p.Glu3499* | DMD | Negative | 0 |
33 | 74 | c.10498_10499delAG | p.Ser3500* | BMD | Positive | 0 |
34 | 74 | c.10500_10501delTG | p.Ser3500Argfs*14 | IMD | Negative | 0 |
Bold characters represent BMD phenotype, positive dystrophin staining, skipping ratio > 0.05