| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3192delA | p.Glu1065LysfsX23 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | del1c | Fs. | Stop at 1087 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #11 |
| At the mRNA level | On restriction map |
| Deletion 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 |
| USA02OMA F0005 I554 | Proband | NA | de novo | at 20 years old | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Aortic insufficiency | moderate |
| C-Asc. aortic dilatation | moderate |
| S-Arachnodactyly (M) | |
| S-High arched palate | |
| S-Joint hypermobility (m) | |
| S-Pectus excavatum moderate (m)(1) | |
| S-Scoliosis > 20° (M)(1) | mild |
| Reference ID | PubMed ID | Reference |
| 35 | 9101298 | Wang M, Wang JY, Cisler J, Imaizumi K, Burton BK, Jones MC, Lamberti JJ, Godfrey M. "Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome". Hum Mutat 1997;9(4):359-62 . |