| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7201_11055del | p.Arg2401ValfsX22 | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGG | Arg | del3855a | InF | Stop at 2422 | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| CRD-repeat #19 |
| At the mRNA level | On restriction map |
| 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 |
| Reduced size, normal quantity |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ---092-0-1 | Proband | Male | Familial | 0 | FRANCE |
| Phenotypic group |
| IMD |
| + Mental retardation + deletion of the Congenital Adrenal Hypoplasia and Glycerol Kinase genes. This patient was also published previously by Chelly et al. Hum Genet. 1988 Mar;78(3):222-7; Marlhens et al. Hum Genet. 1987 Dec;77(4):379-83. and Matsumura et al. J Clin Invest. 1993 Aug;92(2):866-71. |
| Reference ID | PubMed ID | Reference |
| 2 | 1737859 | Recan, D., P. Chafey, et al. (1992). "Are cysteine-rich and COOH-terminal domains of dystrophin critical for sarcolemmal localization?" J Clin Invest 89(2): 712-6. |