| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS74-2A>G (c.10554-2A>G) | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGG | Arg | spl-2 | Spl. | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| At the mRNA level | On restriction map |
| r.[=, 10554_10797del, 10554_10857del] | 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 (%) | |||||
| tgatgccaatagGA |
| tgatgccaatggGA |
| -37.1 % | ||||||
| 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 Low | Irregular Low | ||||
| Western Blot | ||
| dys 1 | dys 2 | dys 3 |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ---133-8-01 | Proband | Male | Unknown | FRANCE |
| Phenotypic group |
| BMD |
| Reference ID | PubMed ID | Reference |
| 105 | 10533061 | Tuffery-Giraud S, Chambert S, Demaille J, Claustres M. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects. Hum Mutat. 1999, 14(5):359-68. |