Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
c.IVS26+3A>T (c.3603+3A>T) | Hemizygous | Mutation |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
AAG | Lys | spl+3 | Spl. | A->T | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
At the mRNA level | On restriction map |
ins116 nucleotides | 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 (%) | |||||
AAGgtaaaa |
| AAGgttaaa |
| -17.9 % |
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 |
Normal size, low quantity | Normal size, low quantity |
Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
---249-0-1 | Proband | Male | Familial | FRANCE |
Phenotypic group |
BMD |
+ Cardiomyopthy + Mental retardation. |
Reference ID | Reference |
1 | Unpublished data |