| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1434dup | p.Gly479ArgfsX12 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGG | Gly | ins1a | Fs. | Stop at 490 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #04 | conserved AA in EGF-like |
| 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 |
| FRA01BOU F0241 I0280 | Proband | Male | familial | 48 years old | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral valve prolapse | |
| C-Other artery aneurysm/dissection | |
| O-Flat cornea (<42 dp) (m) | |
| S-Arachnodactyly (M) | |
| S-Crowding teeth (m) | |
| S-Dolichostenomelia | |
| S-High arched palate | |
| S-Joint hypermobility (m) | |
| S-Plain pes planus (M)(1) | |
| S-Protusio acetabulæ (M)(2) | bilateral |
| 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. |