Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
c.IVS21-2A>C (c.2804-2A>C) | Hemizygous | Mutation |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
ATT | Ile | spl-2 | Spl. | A->C | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
At the mRNA level | On restriction map |
r.2804_2835del | New restriction site(s): none Lost restriction site(s): none |
Impact on splicing | ||||||||||
Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
cttttgataaagTT |
| cttttgataacgTT |
| -37.2 % |
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 with Revertant fibers | No signal with Revertant fibers | No signal with Revertant fibers |
Western Blot | ||
dys 1 | dys 2 | dys 3 |
No signal | No signal |
Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
---670-0-1 | Proband | Male | Familial | FRANCE |
Phenotypic group |
DMD |
|
|
|
Reference ID | PubMed ID | Reference |
10 | 17041906 | Deburgrave N, Daoud F, Llense S, Barbot JC, R*can D, Peccate C, Burghes AH, B*roud C, Garcia L, Kaplan JC, Chelly J, Leturcq F. Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. Hum Mutat. 2007 Feb;28(2):183-95. |