| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1_31del | p.Met1? | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATG | Met | del31a | Fs. | Stop at 15 | Fr. |
| 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 |
| ---048-0-1 | Proband | Male | Familial | UK age |
| Phenotypic group |
| DMD |
| Actually this patient had a DMD promotor deletion associated with the exon 1 deletion. |
| Reference ID | PubMed ID | Reference |
| 12 | 7802009 | Abbadi N, Philippe C, Chery M, Gilgenkrantz H, Tome F, Collin H, Theau D, Recan D, Broux O, Fardeau M, et al. Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation. Am J Med Genet. 1994 Aug 15;52(2):198-206. |