| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.94_650dup | p.Asp217ValfsX7 | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTT | Phe | ins556a | Fs. | Stop at 223 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Actin binding domain |
| 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 | ||||
| Western Blot | ||
| dys 1 | dys 2 | dys 3 |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ---041-1-1 | Relative | Male | Familial | FRANCE |
| Phenotypic group |
| DMD |
| This patient have been published as patient 16 by Moizard et al. Am J Med Genet. 1998 Oct 30;80(1):32-41. |
| Reference ID | PubMed ID | Reference |
| 119 | 9800909 | Moizard MP, Billard C, Toutain A, Berret F, Marmin N, Moraine C. Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy? Am J Med Genet. 1998, 80(1):32-41. |