Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
c.[1768T>C; 1769T>G] | p.Phe590Arg | Hemizygous | Mutation |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TTT | Phe | CGT | Arg | T->C/T->G | Ts/Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
CRD-repeat #3 | Yes, coding strand | No |
At the mRNA level | On restriction map |
New restriction site(s): Eae I, Hae III Lost restriction site(s): Dra I, Mse I |
Pathogenicity (bioinformatics predictions) | ||
Conservation (0-1) | SIFT (0-1) | UMD predictor (0-100) |
0 | - | 82 (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 |
---981-0-1 | Proband | Male | Familial | FRANCE |
Phenotypic group |
DMD |
This patient carry also a c.1771_1786 deletion. |
Reference ID | Reference |
1 | Unpublished data |