| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5480T>A | p.Leu1827X | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTG | Leu | TAG | Stop | T->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| CRD-repeat #14 | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| r.[5449_5586del,5326_5586del,5326_5922del] | 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 | ||||
| Irregular Low | 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 |
| ---461-3-91 | Proband | Male | Familial | FRANCE |
| Phenotypic group |
| BMD |
| Reference ID | Reference |
| 106 | Unpublished data |