Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
c.94_650dup | p.Asp217ValfsX7 | Heterozygous | Mutation |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TTT | Phe | ins556a | Fs. | Stop at 223 | 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 |
---069-2-2 | Relative | Female | Unknown |
Phenotypic group |
Symptomatic carrier |
DMD carrier - symptomatic. Case A/III-1 of the report. |
Reference ID | PubMed ID | Reference |
6 | 13679720 | Lesca G, Demarquay G, Llense S, Streichenberger N, Petiot P, Michel-Calemard L, Recan D, Vial C, Ollagnon-Roman E."Symptomatic carriers of dystrophinopathy with chromosome X inactivation bias" Rev Neurol (Paris). 2003 Sep;159(8-9):775-80 |