The UMD-DMD France mutations database
Record ID: 1090
Mutation description
| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS32-3del7 (c.4519-3del7) | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAC | Asn | spl-3 | Spl. | del7 | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Mutation impact
| At the mRNA level | On restriction map |
| r.[4519_4532del, 4519_4845del] | 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 (%) | |||||
| gtttaaacttagAA |
| gtttaaactGTATAA |
| -82.1 % | ||||||
| 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 | ||||
| Western Blot | ||
| dys 1 | dys 2 | dys 3 |
Patient and sample data
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ---135-1-1 | Relative | Male | Familial | 0 |
| Phenotypic group |
| BMD |
Associated pictures
 DYS I |
 DYS II |
Reference
| Reference ID | Reference |
| 1 | Unpublished data |