Table 4.
Nonsense Mutations
| Sample | Exon | DNA change | Stop | Protein | New | Disease |
|---|---|---|---|---|---|---|
| 3761 | 6 | c.409 G>T | TAA | E137X | Yes | DMD |
| TU182-TU294-TU183-TU378 | 6 | c.433 C>T | TGA | R145X | No | DMD |
| TU139-3443 | 7 | c.583 C>T | TGA | R195X | No | DMD |
| TU184 | 10 | c.1062 G>A | TGA | W354X | No | DMD |
| TU86 | 10 | c.1093 C>T | TAA | Q365X | No | DMD |
| TU180 | 11 | c.1292 G>A | TGA | W431X | No | DMD |
| TU318 | 14 | c.1652 G>A | TGA | W551X | Yes | DMD |
| TU187-TU189 | 17 | c.2125 C>T | TAA | Q709X | No | DMD |
| TU05 | 19 | c.2302 C>T | TGA | R768X | No | DMD |
| G11 | 19 | c.2380 G>T | TAG | E794X | Yes | DMD |
| TU70 | 20 | c.2414 C>G | TGA | S805X | Yes | DMD |
| F1 | 20 | c.2521 C>T | TAA | Q841X | No | DMD |
| TU01 | 23 | c.2956 C>T | TAA | Q986X | No | DMD |
| TU107 | 23 | c.3151 C>T | TGA | R1051X | No | DMD |
| TU51-TU185 | 24 | c.3259 C>T | TAG | Q1087X | No | DMD |
| TU32 | 25 | c.3409 C>T | TAG | Q1137X | No | DMD |
| TU12 | 26a | c.3580 C>T | TAG | Q1194X | No | DMD |
| 475 | 27 | c.3625 C>T | TAA | Q1209X | Yes | DMD |
| TU342 | 28 | c.3843 G>A | TGA | W1281X | Yes | BMD |
| TU181-TU188-TU102 | 29 | c.3940 C>T | TGA | R1314X | No | BMD |
| TU218 | 30 | c.4117 C>T | TAG | Q1373X | No | DMD |
| R46 | 33 | c.4600 C>T | TAG | Q1534X | No | DMD |
| TU24 | 34 | c.4690 C>T | TAA | Q1564X | Yes | DMD |
| TU271 | 35 | c.4979 G>A | TGA | W1660X | Yes | BMD |
| TU190 | 35 | c.4996 C>T | TGA | R1666X | No | DMD |
| TU63 | 37 | c.5209 C>T | TAA | Q1737X | Yes | DMD |
| TU266 | 39 | c.5476 G>T | TAA | E1826X | No | DMD Carrier |
| TU194 | 39 | c.5530 C>T | TGA | R1844X | No | DMD |
| TU60 | 41 | c.5773 G>T | TAG | E1925X | No | DMD |
| TU112-TU178-TU84 | 41 | c.5899 C>T | TGA | R1967X | No | DMD |
| TU159 | 42 | c.6023 C>A | TGA | S2008X | Yes | DMD |
| G2-G8-R42 | 46 | c.6678 G>A | TGA | W2226X | Yes | DMD |
| TU186 | 48 | c.7006 C>T | TAG | Q2336X | No | DMD |
| R88 | 57 | c.8422 A>T | TAG | K2808X | Yes | DMD |
| TU152 | 59 | c.8713 C>T | TGA | R2905X | No | DMD |
| 3448 | 59 | c.8880 G>A | TGA | W2960X | Yes | DMD |
| TU02-TU157 | 60 | c.8944 C>T | TGA | R2982X | No | DMD |
| TU87 | 65 | c.9461 T>A | TAG | L3154X | No | BMD |
| TU18 | 68 | c.9829 G>T | TAA | E3277X | Yes | BMD/DMD |
| TU208-G13 | 70 | c.10108 C>T | TGA | R3370X | No | DMD |
| F4 | 70 | c.10135 A>T | TAA | K3379X | No | DMD |
| G3 | 70 | c.10171 C>T | TGA | R3391X | No | DMD |
Resulting TGA stop codons are indicated in bold.