| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1812delC | p.Val605PhefsX2 | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GCC | Ala | del1c | Fs. | Stop at 606 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| CRD-repeat #3 | Yes, coding strand |
| At the mRNA level | On restriction map |
| r.1812delcÊ | New restriction site(s): BspW I Lost restriction site(s): Dra I, Hae III, Mse I |
| 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 with Revertant fibers | No signal with Revertant fibers | ||||
| Western Blot | ||
| dys 1 | dys 2 | dys 3 |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ---190-1-81 | Proband | Male | Familial | FRANCE |
| Phenotypic group |
| DMD |
| Reference ID | PubMed ID | Reference |
| 100 | 15351422 | Tuffery-Giraud S, Saquet C, Chambert S, Echenne B, Marie Cuisset J, Rivier F, Cossee M, Philippe C, Monnier N, Bieth E, Recan D, Antoinette Voelckel M, Perelman S, Lambert JC, Malcolm S, Claustres M. The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre. Neuromuscul Disord. 2004, 14(10):650-8. |