The UMD-DMD France mutations database
Record ID: 1088
Mutation description
| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS62-647A>G (c.9225-647A>G) | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAC | Asn | spl-647 | Spl. | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Mutation impact
| At the mRNA level | On restriction map |
| r.[=, 9224_9225ins9225-713_9225-647] | 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 (%) | |||||
| ATTCAGGCCCAAGTA |
| ATTCAGGCCCAGGTA |
| 33.7 % | ||||||
| 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 Low | Irregular Low | |||||
| Western Blot | ||
| dys 1 | dys 2 | dys 3 |
| Normal size, low quantity | Normal size, low quantity |
Patient and sample data
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ---553-0-1 | Proband | Male | Familial | 0 | FRANCE |
| Phenotypic group |
| DMD |
Associated pictures
 DYS I |
 DYS II |
 Myosin |
Comments
| + Mental retardation. Case 4 of the report (patient CJ). This patient have been also republished by Deburgrave et al. Hum Mutat. 2007 Feb;28(2):183-95. |
Reference
| Reference ID | PubMed ID | Reference |
| 4 | 14659407 | Beroud C, Carrie A, Beldjord C, Deburgrave N, Llense S, Carelle N, Peccate C, Cuisset JM, Pandit F, Carre-Pigeon F, Mayer M, Bellance R, Recan D, Chelly J, Kaplan JC, Leturcq F."Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene."Neuromuscul Disord. 2004 Jan;14(1):10-8. |