| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS32-5C>G (c.4519-5C>G) | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAC | Asn | spl-5 | Spl. | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| At the mRNA level | On restriction map |
| r.[4519_4674del, 4518_4519ins4519-4_4519-1, =] | 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 (%) | |||||
| TTATGTTTAAACTTA |
| TTATGTTTAAAGTTA |
| 36.7 % | ||||||
| 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 | ||||
| Mosaic Low | ||||||
| Western Blot | ||
| dys 1 | dys 2 | dys 3 |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ---282-5-21 | Proband | Male | Unknown | FRANCE |
| Phenotypic group |
| BMD |
| Reference ID | PubMed ID | Reference |
| 124 | 16077730 | Tuffery-Giraud S, Saquet C, Thorel D, Disset A, Rivier F, Malcolm S, Claustres M. Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. Eur J Hum Genet. 2005, 13(12):1254-60. |