| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2057C>A | p.Ala686Asp | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GCC | Ala | GAC | Asp | C->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#02 | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Hha I, HinP I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 88 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0170 I0209 | Proband | Male | familial | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Aortic insufficiency | |
| C-Asc. aortic dilatation | |
| C-Mitral valve prolapse | |
| CF-Malar hypoplasia | |
| CNS-Lumbosacral dural ectasia | |
| O-Flat cornea (<42 dp) (m) | bilateral |
| S-Arachnodactyly (M) | |
| S-Arm span/height >1.05 (M) | |
| S-Dolichostenomelia | |
| S-High arched palate | |
| S-Pectus excavatum moderate (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. |