| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1373A>C | p.Tyr458Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAT | Tyr | TCT | Ser | A->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #04 | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.57 (non pathogenous) | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0107 I0145 | Proband | Male | de novo | 12 years old | 45 years old | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Mitral regurgitation |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| C-Tricuspid valve prolapse |
| CNS-Lombosacral meningocele |
| O-Ectopia lentis |
| O-Flat cornea (<42 dp) (m) |
| O-Glaucoma |
| O-Iridodonesis |
| S-Arachnodactyly (M) |
| S-Arm span/height >1.05 (M) |
| S-Crowding teeth (m) |
| S-Dolichostenomelia |
| S-High arched palate |
| S-Plain pes planus (M)(1) |
| 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. |