Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
c.4857delA | p.Glu1620ArgfsX9 | Hemizygous | Mutation |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
AAA | Lys | del1c | Fs. | Stop at 1628 | Fr. |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
CRD-repeat #12 |
At the mRNA level | On restriction map |
r.4857del | New restriction site(s): none Lost restriction site(s): none |
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 |
---220-3-91 | Proband | Male | Familial | FRANCE |
Phenotypic group |
DMD |
Mutation also reported in Ref 10 |
Reference ID | PubMed ID | Reference |
105 | 10533061 | Tuffery-Giraud S, Chambert S, Demaille J, Claustres M. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects. Hum Mutat. 1999, 14(5):359-68. |