Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
c.3707T>A | p.Leu1236X | Heterozygous | Mutation |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TTA | Leu | TAA | Stop | T->A | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
CRD-repeat #8 | Yes, coding strand | No |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): Mse 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 |
Western Blot | ||
dys 1 | dys 2 | dys 3 |
Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
---113-0-2 | Proband | Female | Familial | FRANCE |
Phenotypic group |
Symptomatic carrier |
DMD carrier, son affected and died (not analysed). This patient suffers from myalgia and had elevated CPK. |
Reference ID | Reference |
1 | Unpublished data |