Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
c.94_2169dup | p.Arg723SerfsX21 | Heterozygous | Mutation |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TTT | Phe | ins2075a | Fs. | Stop at 743 | Fr. |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Actin binding domain |
At the mRNA level | On restriction map |
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 |
---406-0-2 | Proband | Female | De novo |
Phenotypic group |
Symptomatic carrier |
|
|
|
DMD carrier - Symptomatic |
Reference ID | PubMed ID | Reference |
8 | 11404124 | Romero NB, De Lonlay P, Llense S, Leturcq F, Touati G, Urtizberea JA, Saudubray JM, Munnich A, Kaplan JC, R*can D. Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin gene. Neuromuscul Disord. 2001 Jul;11(5):494-8. |