| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8914C>T | p.Gln2972X | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAA | Gln | TAA | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| CRD-repeat #24 | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| r.[8914c>u, 8863_8937del] | 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 | ||||
| No signal | No signal | No signal | ||||
| Western Blot | ||
| dys 1 | dys 2 | dys 3 |
| Normal size, low quantity | No signal |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ---393-9-41 | Proband | Male | De novo | FRANCE |
| Phenotypic group |
| Pending |
| Reference ID | Reference |
| 106 | Unpublished data |