| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1969_1970delAT | p.Met657AlafsX23 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATG | Met | del2a | Fs. | Stop at 679 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#02 |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0148 I0187 | Proband | Male | familial | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Aortic insufficiency |
| C-Asc. aortic dilatation |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| CNS-Lumbosacral dural ectasia |
| O-Ectopia lentis |
| O-Increased axial length of globe (m) |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Arm span/height >1.05 (M) |
| S-Crowding teeth (m) |
| S-Dolichostenomelia |
| S-High arched palate |
| S-Joint hypermobility (m) |
| S-Kyphosis |
| S-Pectus excavatum moderate (m)(1) |
| S-Plain pes planus (M)(1) |
| S-Protusio acetabulæ (M)(2) |
| S-Reduced US/LS ratio <0.87 (M) |
| S-Scoliosis > 20° (M)(1) |
| SI-Inguinal hernia |
| 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. |