| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1589_6163del | p.Ile531_Asp2055del | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | del4575b | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #04 | Ca2+ binding |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD08SOU F0001 I0001 | Proband | Female | de novo | U.K. |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| C-Aortic insufficiency | 5 |
| C-Mitral valve prolapse | 5 |
| CF-Dolichocephaly | 4 |
| CF-Malar hypoplasia | 4 |
| O-Ectopia lentis | 3 |
| O-Iridodonesis | |
| O-Myopia | 3 |
| S-Arachnodactyly (M) | 4 |
| S-High arched palate | 4 |
| S-Joint hypermobility (m) | 2 |
| S-Pectus carinatum (M)(2) | 4 |
| S-Plain pes planus (M)(1) | 2 |
| S-Scoliosis > 20° (M)(1) | 4 |
| Reference ID | PubMed ID | Reference |
| 168 | 18412115 | Blyth M, Foulds N, Turner C, Bunyan D. "Severe Marfan syndrome due to FBN1 exon deletions". Am J Med Genet A. 2008 May 15;146A(10):1320-4. |