Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
c.IVS2-1G>A (c.94-1G>A) | Hemizygous | Mutation |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TTT | Phe | spl-1 | Spl. | G->A | Ts |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
At the mRNA level | On restriction map |
r.94_186del | 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 (%) | |||||
ttttaatttcagTT |
| ttttaatttcaaTT |
| -32.4 % |
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 |
---452-2-41 | Proband | Male | Familial | FRANCE |
Phenotypic group |
Pending |
Reference ID | Reference |
106 | Unpublished data |