| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1_11055del | p.Met1? | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATG | Met | del11055a | Stop at 5 | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Dp427m unique N-Ter |
| 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 |
| ---020-0-1 | Proband | Male | Unknown | 0 | 22 |
| Phenotypic group |
| DMD |
| Reference ID | PubMed ID | Reference |
| 3 | 2894344 | Chelly J, Marlhens F, Dutrillaux B, Van Ommen GJ, Lambert M, Haioun B, Boissinot G, Fardeau M, Kaplan JC. Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia. Hum Genet. 1988 Mar;78(3):222-7. |