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. 2020 Jan 9;139(2):247–255. doi: 10.1007/s00439-019-02107-4

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

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