Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
c.7105G>T | p.Glu2369X | Hemizygous | Mutation |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GAA | Glu | TAA | Stop | G->T | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
CRD-repeat #19 | Yes, non coding strand | No |
At the mRNA level | On restriction map |
r.7105g>u | 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 |
Irregular Low | Irregular Low | Irregular Low |
Western Blot | ||
dys 1 | dys 2 | dys 3 |
Normal size, low quantity | Normal size, low quantity |
Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
---552-0-1 | Proband | Male | Familial | 12 | FRANCE |
Phenotypic group |
BMD |
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Reference ID | Reference |
1 | Unpublished data |