| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1483_4071del | p.Val495_Glu1357del | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTG | Val | del2589a | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| CRD-repeat #2 |
| 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 |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ---186-4-1 | Relative | Male | Familial | FRANCE |
| Phenotypic group |
| Asymptomatic |
| This patient had only elevated CPK without clinical symptoms. |
| Reference ID | PubMed ID | Reference |
| 7 | 9447607 | Romero NB, Recan D, Rigal O, Leturcq F, Llense S, Barbot JC, Deburgrave N, Cheval MA, Deniau F, Kaplan JC. A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci. Neuromuscul Disord. 1997 Dec;7(8):499-504. |