Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
c.7378G>T | p.Glu2460X | Hemizygous | Mutation |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GAA | Glu | TAA | Stop | G->T | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
CRD-hinge region #3 | Yes, non coding strand | No |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): Rma 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 |
No signal | No signal | No signal |
Western Blot | ||
dys 1 | dys 2 | dys 3 |
Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
---169-0-1 | Proband | Male | Unknown | 19,75 | FRANCE |
Phenotypic group |
DMD |
Reference ID | Reference |
1 | Unpublished data |