| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5065dup | p.Asp1689GlyfsX14 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | ins1b | Fs. | Stop at 1702 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#05 | conserved AA in TGFBP |
| At the mRNA level | On restriction map |
| Duplication in a stretch of nucleotides | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ITA01FLO F0006 I06 | Proband | Male | de novo | 27 years old | ITALIA |
| Phenotypic group | Disease |
| NA | Infantil MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| CF-Blue sclerae |
| CF-Retrognathia |
| CNS-Lumbosacral dural ectasia |
| L-Spontaneous pneumothorax |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Crowding teeth (m) |
| S-Dolichostenomelia |
| S-High arched palate |
| S-Joint hypermobility (m) |
| S-Pectus excavatum moderate (m)(1) |
| S-Plain pes planus (M)(1) |
| S-Scoliosis > 20° (M)(1) |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 93 | 11453977 | Pepe G, Giusti B, Evangelisti L, Porciani MC, Brunelli T, Giurlani L, Attanasio M, Fattori R, Bagni C, Comeglio P, Abbate R, Gensini GF. "Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation". Clin Genet. 2001 Jun;59(6):444-50. |