| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3142_3144delATT | p.Ile1048del | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATT | Ile | del3a | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #11 | 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 |
| USA05HOU F0007 I251 | Proband | NA | de novo | at birth | 2 months | U.S.A |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Congestive heart failure |
| O-Ectopia lentis |
| S-Arachnodactyly (M) |
| S-Characteristic facial appearance |
| S-Crumpled ears |
| S-Dolichostenomelia |
| S-High arched palate |
| S-Joint hypermobility (m) |
| S-Joint limitations |
| S-Kyphosis |
| S-Pectus excavatum moderate (m)(1) |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 26 | 8882780 | Putnam EA, Cho M, Zinn AB, Towbin JA, Byers PH, Milewicz DM. "Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene". Am J Med Genet 1996 Mar 29;62(3):233-42 . |