| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1570dup | p.Thr524AsnfsX9 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACG | Thr | ins1b | Fs. | Stop at 532 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #03 |
| At the mRNA level | On restriction map |
| One base duplication | 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 F0172 I0211 | Proband | Female | familial | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Aortic insufficiency | moderate |
| C-Asc. aortic dilatation | |
| C-Mitral regurgitation | moderate |
| C-Mitral valve prolapse | |
| O-Ectopia lentis | bilateral |
| O-Flat cornea (<42 dp) (m) | bilateral |
| S-Arachnodactyly (M) | |
| S-Crowding teeth (m) | |
| S-High arched palate | |
| S-Pectus excavatum moderate (m)(1) | |
| S-Plain pes planus (M)(1) | |
| S-Protusio acetabulæ (M)(2) | bilateral |
| S-Scoliosis > 20° (M)(1) | |
| SI-Other herniae | diaphragmatic |
| 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. |