Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
c.7099_7660del | p.Glu2367LeufsX22 | Hemizygous | Mutation |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GAA | Glu | del562a | Fs. | Stop at 2388 | Fr. |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
CRD-repeat #19 |
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 |
---062-8-21 | Proband | Male | Unknown | FRANCE |
Phenotypic group |
Pending |
Reference ID | Reference |
115 | Unpublished data |