| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6276C>G | p.Tyr2092X | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAC | Tyr | TAG | Stop | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| CRD-repeat #16 | No | No |
| At the mRNA level | On restriction map |
| r.6276c>g | New restriction site(s): none Lost restriction site(s): Csp6 I, Rsa I |
| 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 | Irregular Medium | ||||
| Western Blot | ||
| dys 1 | dys 2 | dys 3 |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ---196-1-71 | Proband | Male | Mosaic (somatic) | FRANCE |
| Phenotypic group |
| DMD |
| Germinal mosaicism? The mother has transmitted the mutation several times. |
| Reference ID | PubMed ID | Reference |
| 100 | 15351422 | Tuffery-Giraud S, Saquet C, Chambert S, Echenne B, Marie Cuisset J, Rivier F, Cossee M, Philippe C, Monnier N, Bieth E, Recan D, Antoinette Voelckel M, Perelman S, Lambert JC, Malcolm S, Claustres M. The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre. Neuromuscul Disord. 2004, 14(10):650-8. |