Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
c.IVS18-1G>T (c.2293-1G>T) | Hemizygous | Mutation |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GCC | Ala | spl-1 | Spl. | G->T | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
At the mRNA level | On restriction map |
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 (%) | |||||
ctcatgctgcagGC |
| ctcatgctgcatGC |
| -32.1 % |
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 |
---025-0-21 | Proband | Male | Familial | FRANCE |
Phenotypic group |
DMD |
Reference ID | PubMed ID | Reference |
111 | 10094565 | Dubourg C, Odent S, Fergelot P, Le Gall JY, David V, Blayau M. Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure. Mutations in brief no. 222. Online. Hum Mutat. 1999;13(2):173. |