| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.265_650dup | p.Asp217GlyfsX2 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTT | Val | ins385a | Fs. | Stop at 218 |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Actin binding domain |
| At the mRNA level | On restriction map |
| 2 RNAs: normal + dup5-7 | 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 | ||||
| Mosaic Medium | Mosaic Medium | Mosaic Medium | ||||
| Western Blot | ||
| dys 1 | dys 2 | dys 3 |
| Normal size, normal quantity | Normal size, normal quantity |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ---771-0-2 | Proband | Female | Familial | SPAIN |
| Phenotypic group |
| Symptomatic carrier |
| Reference ID | Reference |
| 1 | Unpublished data |