| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8914C>T | p.Gln2972X | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAA | Gln | TAA | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| CRD-repeat #24 | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| r.8914c>u | 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 | ||||
| Western Blot | ||
| dys 1 | dys 2 | dys 3 |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ---089-6-51 | Proband | Male | Familial | FRANCE |
| Phenotypic group |
| DMD |
| Reference ID | PubMed ID | Reference |
| 102 | 8840114 | Tuffery S, Bareil C, Demaille J, Claustres M. Four novel dystrophin point mutations: detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients. Eur J Hum Genet. 1996, 4(3):143-52. |