| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7818dup | p.Asp2607X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | ins1a | Fs. | Stop at 2607 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #42 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Duplication flanked by direct repeats | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD04OXF F0020 I42 | Proband | NA | de novo | ? (40 years old) | U.K. |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| no clinical data |
| Reference ID | PubMed ID | Reference |
| 88 | 12161601 | Halliday DJ, Hutchinson S, Lonie L, Hurst JA, Firth H, Handford PA, Wordsworth P. "Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice". J Med Genet 2002, 39: 589-593. |