| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5470_5484dup | p.Cys1824_Gly1829dup | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGC | Gly | ins15a | InF | In frame ins | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #26 | Domain-domain packing |
| 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 |
| FRA01BOU F0168 I0207 | Proband | Male | familial | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral regurgitation |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| CNS-Lumbosacral dural ectasia |
| O-Aphakia |
| O-Ectopia lentis |
| O-Flat cornea (<42 dp) (m) |
| O-Increased axial length of globe (m) |
| O-Myopia |
| O-Retinal detachment |
| O-Strabismus |
| S-Arachnodactyly (M) |
| S-Dolichostenomelia |
| S-High arched palate |
| S-Pectus carinatum (M)(2) |
| S-Reduced US/LS ratio <0.87 (M) |
| S-Scoliosis > 20° (M)(1) |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 64 | 12938084 | Collod-B*roud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, B*roud C, Boileau C. "Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database". Hum Mutat. 2003 Sep;22(3):199-208. |