| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1904A>G | p.Tyr635Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAC | Tyr | TGC | Cys | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #06 | Ca2+ binding | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Pst I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.01 (pathogenous) | 99 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0211 I0250 | Proband | Male | de novo | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral valve prolapse | |
| CNS-Lumbosacral dural ectasia | |
| O-Aphakia | |
| O-Ectopia lentis | bilateral |
| O-Flat cornea (<42 dp) (m) | bilateral |
| S-Arachnodactyly (M) | moderate |
| S-Arm span/height >1.05 (M) | |
| S-Dolichostenomelia | |
| S-Reduced US/LS ratio <0.87 (M) | |
| S-Scoliosis > 20° (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. |