| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6451T>C | p.Cys2151Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | CGC | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #32 | Disulfide bonds 2137-2151 (C4) | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): BstU I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0191 I0230 | Proband | Male | familial | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral valve prolapse | |
| O-Ectopia lentis | |
| O-Flat cornea (<42 dp) (m) | |
| O-Increased axial length of globe (m) | |
| S-Arachnodactyly (M) | |
| S-Arm span/height >1.05 (M) | |
| S-Crowding teeth (m) | |
| S-Dolichostenomelia | |
| S-High arched palate | |
| S-Joint hypermobility (m) | |
| S-Protusio acetabulæ (M)(2) | bilateral |
| S-Scoliosis > 20° (M)(1) | severe |
| 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. |