| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1090C>T | p.Arg364X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGA | Arg | TGA | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#01 | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Eag I, Hae III |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0169 I0208 | Proband | Male | familial | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Asc. aortic dilatation |
| C-Mitral regurgitation |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| CNS-Lombosacral meningocele |
| CNS-Lumbosacral dural ectasia |
| CNS-Lumbosacral dural ectasia |
| L-Spontaneous pneumothorax |
| O-Cataract |
| O-Flat cornea (<42 dp) (m) |
| O-Increased axial length of globe (m) |
| S-Arachnodactyly (M) |
| S-Arm span/height >1.05 (M) |
| S-Crowding teeth (m) |
| S-Dolichostenomelia |
| S-High arched palate |
| S-Joint limitations |
| S-Kyphosis |
| S-Lordosis |
| S-Protusio acetabulæ (M)(2) |
| S-Scoliosis > 20° (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. |