| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7851C>G | p.Cys2617Trp | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TGG | Trp | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #42 | Disulfide bonds 2617-2631 (C2) | 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) |
|---|---|---|
| 1 | 0.05 (non pathogenous) | 94 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0151 I0190 | Proband | Female | familial | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Mitral regurgitation | borderline |
| CNS-Lombosacral meningocele | |
| O-Ectopia lentis | |
| O-Glaucoma | |
| O-Increased axial length of globe (m) | |
| O-Myopia | |
| O-Retinal detachment | |
| S-Arachnodactyly (M) | |
| S-Joint hypermobility (m) | |
| S-Kyphosis | |
| S-Plain pes planus (M)(1) | |
| S-Protusio acetabulæ (M)(2) | |
| 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. |