| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4250T>A | p.Leu1417X | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTG | Leu | TAG | Stop | T->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| CRD-repeat #10 | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| r.[4250u>a, 4234_4344del] | New restriction site(s): none Lost restriction site(s): none |
| 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 Medium | Irregular Low | ||||
| Western Blot | ||
| dys 1 | dys 2 | dys 3 |
| Reduced size, low quantity | Reduced size, low quantity |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ---182-0-61 | Proband | Male | De novo | FRANCE |
| Phenotypic group |
| BMD |
| See also Ref 125 |
| 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. |