| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6405_6406dup | p.Cys2137SerfsX24 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTC | Val | ins2b | Fs. | Stop at 2160 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #32 | conserved AA in cbEGF-like |
| 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 |
| USA17HER F0001 I0001 | Proband | Female | familial | 13 years old | U.S.A. |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| C-Mitral valve prolapse | 46 |
| CNS-Lumbosacral dural ectasia | 46 |
| O-Cataract | 46 |
| O-Ectopia lentis | 46 |
| O-Myopia | 46 |
| S-Arm span/height >1.05 (M) | 46 |
| S-Crowding teeth (m) | 46 |
| S-High arched palate | 46 |
| S-Joint hypermobility (m) | 46 |
| S-Joint limitations | 46 |
| S-Pectus carinatum (M)(2) | 46 |
| S-Plain pes planus (M)(1) | 46 |
| S-Scoliosis > 20° (M)(1) | 46 |
| SI-Significant striae atrophicae (m)(1) | 46 |
| Reference ID | PubMed ID | Reference |
| 199 | 20672986 | Roopnariane A, Freed RJ, Price S, Fox EJ, Ritty TM. "Osteosarcoma in a Marfan patient with a novel premature termination codon in the FBN1 gene". Connect Tissue Res. 2011 Apr;52(2):157-65. |