| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4088_4210del | p.Leu1364_Asp1404del | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | del123b | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #19 | 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 F0002 I0001 | Proband | Female | de novo | at birth | U.K. |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity | Age |
| CF-Blue sclerae | ||
| CF-Deep set eyes | ||
| CF-Micrognathia | ||
| O-Hypoplastic ciliary muscle->decreased miosis (m) | bilateral | 0,12 |
| O-Megalocornea | ||
| O-Myopia | ||
| S-Abnormal ears | ||
| S-Arachnodactyly (M) | ||
| S-High arched palate | ||
| S-Increased body length | ||
| S-Joint limitations | ||
| S-Pectus excavatum moderate (m)(1) | ||
| SI-Loose, redundant skin |
| 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. |