| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS44-1G>A (c.6439-1G>A) | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | spl-1 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| ggtatcttacagGA |
| ggtatcttacaaGA |
| -33.1 % | ||||||
| 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 | ||||
| Normal | Irregular Medium | No signal | ||||
| Western Blot | ||
| dys 1 | dys 2 | dys 3 |
| No signal | No signal |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ---880-0-1 | Proband | Male | Familial | FRANCE |
| Phenotypic group |
| Pending |
| Reference ID | Reference |
| 1 | Unpublished data |