| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2950G>A | p.Val984Ile | Heterozygous | Polymorphism |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTC | Val | ATC | Ile | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#03 | No | Yes |
| 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 | 0.00 (pathogenous) | 29 (Polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER02MUN F0001 I01 | Proband | Male | de novo | ? (43 years old) | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Asc. aortic dilatation |
| C-Asc. aortic dissection |
| CNS-Lumbosacral dural ectasia |
| O-Myopia |
| O-Retinal detachment |
| S-Arachnodactyly (M) |
| S-Arm span/height >1.05 (M) |
| S-Chest deformity (unspecified) |
| S-Dolichostenomelia |
| S-Increased body length |
| S-Joint hypermobility (m) |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 32 | 10694921 | Grau U, Klein HG, Detter C, Mair H, Welz A, Seidel D, Reichart B. "A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of Marfan syndrome". Hum Mutation. Mutation in Brief#163 Online, 1998;12(2):137. |