| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2169_4846dup | p.Ala1616ValfsX4 | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGG | Arg | ins2677c | Fs. | Stop at 1619 |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| CRD-repeat #4 |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| 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 | ||||
| No signal | No signal | |||||
| Western Blot | ||
| dys 1 | dys 2 | dys 3 |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ---019-1-1 | Relative | Male | De novo | FRANCE |
| Phenotypic group |
| DMD |
| NB: His cousin F750198011 is also affected but carry another DMD mutation (del 49-50) |
| Reference ID | Reference |
| 1 | Unpublished data |