| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.10126delC | p.Leu3376X | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTA | Leu | del1a | Fs. | Stop at 3376 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Carboxy-terminal region |
| At the mRNA level | On restriction map |
| r.10126del | 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 |
| ---085-5-21 | Proband | Male | Familial | FRANCE |
| Phenotypic group |
| DMD |
| Reference ID | PubMed ID | Reference |
| 101 | 7581396 | Tuffery S, Lenk U, Roberts RG, Coubes C, Demaille J, Claustres M. Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation. Hum Mutat. 1995, 6(2):126-35. |