| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS25+2036A>G (c.3432+2036A>G) | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAG | Gln | spl+2036 | Spl. | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Yes, non coding strand |
| At the mRNA level | On restriction map |
| r.[=, 3432_3433ins3432+2037_3432+2131] | 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 (%) | |||||
| CTTTTCCTACAAGTA |
| CTTTTCCTACAGGTA |
| 29.7 % | ||||||
| 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 | ||||
| Irregular Medium | Irregular Low | |||||
| Western Blot | ||
| dys 1 | dys 2 | dys 3 |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ---228-2-31 | Proband | Male | Mosaic (somatic) | FRANCE |
| Phenotypic group |
| BMD |
| Reference ID | PubMed ID | Reference |
| 104 | 12754707 | Tuffery-Giraud S, Saquet C, Chambert S, Claustres M. Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy. Hum Mutat. 2003, 21(6):608-14. |