| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5344T>C | p.Cys1782Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | CGT | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #25 | Disulfide bonds 1770-1782 (C3) | 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) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0143 I0182 | Proband | Male | familial | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Aortic insufficiency | moderate |
| C-Asc. aortic dissection | |
| C-Desc. aortic dilatation (thor or abdo) | |
| C-Mitral valve prolapse | |
| CNS-Lumbosacral dural ectasia | |
| O-Ectopia lentis | bilateral |
| O-Flat cornea (<42 dp) (m) | |
| O-Increased axial length of globe (m) | |
| O-Myopia | |
| O-Retinal detachment | |
| S-Crowding teeth (m) | |
| S-Dolichostenomelia | |
| S-High arched palate | |
| S-Joint limitations | |
| S-Kyphosis | |
| S-Plain pes planus (M)(1) | |
| S-Protusio acetabulæ (M)(2) | |
| 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. |