| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6291_6439dup | p.Glu2147AlafsX3 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGG | Gly | ins148c | Fs. | Stop at 2149 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| CRD-repeat #16 |
| At the mRNA level | On restriction map |
| r.[6438_6439ins6291-18114_6291-18057; 6291_6438dup]Ê | 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 |
| ---127-3-42 | Relative | Female | Familial | FRANCE |
| Phenotypic group |
| Symptomatic carrier |
| Reference ID | Reference |
| 106 | Unpublished data |