| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS62-285A>G (c.9225-285A>G) | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAC | Asn | spl-285 | Spl. | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| At the mRNA level | On restriction map |
| r.[=, 9224_9225ins9225-347_9225-290] | 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 (%) | |||||
| TAACAAGGTCAATTT |
| TAACAAGGTCAGTTT |
| 38.9 % | ||||||
| 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 Medium | |||||
| Western Blot | ||
| dys 1 | dys 2 | dys 3 |
| Normal size, abnormal quantity |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ---067-4-61 | Proband | Male | Unknown | 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. |