| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6439_7660del | p.Glu2147LeufsX22 | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | del1222a | Fs. | Stop at 2168 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| CRD-repeat #17 |
| 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 |
| ---049-0-1 | Proband | Male | Unknown | UK age | FRANCE |
| Phenotypic group |
| DMD |
| + Mental retardation. This patient have been published as patient Patient 3 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. |