| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3175insTGC | p.Gly1058_Phe1059insCys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTT | Phe | ins3a | InF | In frame ins | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #11 | conserved AA in cbEGF-like |
| At the mRNA level | On restriction map |
| Insertion 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 |
| USA05HOU F0001 I01 | Proband | NA | de novo | at birth | 21 months | U.S.A |
| Phenotypic group | Disease |
| Type V d | Neonatal MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Aortic insufficiency |
| C-Asc. aortic dilatation |
| C-Mitral regurgitation |
| C-Pulmonary valve insufficiency |
| L-Apical blebs |
| L-Pulmonary emphysema |
| O-Ectopia lentis |
| S-Abnormal ears |
| S-Arachnodactyly (M) |
| S-Dolichostenomelia |
| S-Joint limitations |
| S-Muscular hypotonia |
| S-Pectus carinatum (M)(2) |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 15 | 8116614 | Milewicz DM, Duvic M. "Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15". Am J Hum Genet 1994 Mar;54(3):447-53 . |