| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3920G>A | p.Cys1307Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TAT | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #17 | Disulfide bonds 1307-1320 (C5) | 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) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0171 I0210 | Proband | Male | familial | 20 years old | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Asc. aortic dissection |
| C-Desc. aortic dilatation (thor or abdo) |
| C-Desc. aortic dissection (thor. or abdo.) |
| C-Mitral valve prolapse |
| CNS-Lombosacral meningocele |
| CNS-Lumbosacral dural ectasia |
| O-Aphakia |
| O-Ectopia lentis |
| O-Iridodonesis |
| S-Arachnodactyly (M) |
| S-Arm span/height >1.05 (M) |
| S-Camptodactyly |
| S-Crowding teeth (m) |
| S-High arched palate |
| S-Increased body length |
| S-Joint hypermobility (m) |
| S-Pectus excavatum moderate (m)(1) |
| S-Plain pes planus (M)(1) |
| 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. |