Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
c.4780_4780delinsGAGATCATATCTGTCATATGATCATATCTTTGTCATA | Hemizygous |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TTG | Leu | indels | indels | indels | indels |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
CRD-repeat #12 |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Pathogenicity (bioinformatics predictions) | ||
Conservation (0-1) | SIFT (0-1) | UMD predictor (0-100) |
0 | - | 65 (Probably pathogenous) |
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 |
---143-8-41 | Proband | Male | Familial | FRANCE |
Phenotypic group |
DMD |
Reference ID | Reference |
106 | Unpublished data |