| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6935_6953dup | p.Cys2318TrpfsX6 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | ins19c | Fs. | Stop at 2323 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like#36 | Disulfide bonds 2318-2331 (C5) | No |
| At the mRNA level | On restriction map |
| Duplication of a repeated sequence | New restriction site(s): BsiY I Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0244 I0283 | Proband | Female | de novo | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral valve prolapse | |
| CNS-Lumbosacral dural ectasia | |
| O-Ectopia lentis | surgery |
| S-Arachnodactyly (M) | |
| S-Characteristic facial appearance | |
| S-Dolichostenomelia | |
| S-Joint hypermobility (m) | |
| S-Joint limitations | |
| S-Scoliosis > 20° (M)(1) | surgery |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 145 | 19293843 | Stheneur C, Collod-B*roud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C. "Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene". Eur J Hum Genet. 2009 Sep;17(9):1121-8. |