| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS69+5G>C (c.10086+5G>C) | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCG | Pro | spl+5 | Spl. | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| At the mRNA level | On restriction map |
| r.9975_10086del | New restriction site(s): none Lost restriction site(s): none |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| CCGgtaagt |
| CCGgtaact |
| -12.6 % | ||||||
| On isoforms (a blue cell indicates that the corresponding isoform is affected by the mutation) | ||||||
| Dp 427c | Dp 427m | Dp 427p | Dp 260 | Dp 140 | Dp 116 | Dp 71 |
| Immunofluorescence | ||||||
| dys 1 | dys 2 | dys 3 | ||||
| Western Blot | ||
| dys 1 | dys 2 | dys 3 |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ---080-5-01 | Proband | Male | De novo | FRANCE |
| Phenotypic group |
| DMD |
| Reference ID | PubMed ID | Reference |
| 103 | 9544849 | Tuffery S, Chambert S, Bareil C, Sarda P, Coubes C, Echenne B, Demaille J, Claustres M. Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test. Hum Genet. 1998, 102(3):334-42. |