| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS46+5G>A (c.5788+5G>A) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl+5 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #29 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Skipping of exon 46, in frame | New restriction site(s): none Lost restriction site(s): none |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| TAGgtgcgt |
| TAGgtgcat |
| -13.8 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER03HAN F0018 I12 | Proband | Female | de novo | 29 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dissection | |
| C-Asc. aortic dissection | surgery |
| no clinical data | |
| O-Ectopia lentis | |
| O-Retinal detachment |
| Reference ID | PubMed ID | Reference |
| 107 | 12402346 | Rommel K, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. "Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations". Hum Mutat. 2002 Nov;20(5):406-7. |