| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5134_5137dup | p.Asn1713IlefsX23 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAC | Asn | ins4b | Fs. | Stop at 1735 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#05 | N-linked glycosylation |
| At the mRNA level | On restriction map |
| Duplication of a repeated sequence | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA01BAL F0009 I03 | Proband | Male | de novo | ? | U.S.A |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | borderline |
| C-Mitral valve prolapse | |
| O-Myopia | |
| S-Dolichostenomelia | severe |
| S-Long bone over growth | moderate |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 4 | 8406497 | Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA. "Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome". Genomics 1993 Aug;17(2):468-75 . |