| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.635_636delCA | p.Thr212SerfsX10 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACA | Thr | del2b | Fs. | Stop at 221 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Hybrid module#01 |
| At the mRNA level | On restriction map |
| Deletion of a repeated sequence | 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 F0142 I0181 | Proband | Female | familial | ? | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Desc. aortic dilatation (thor or abdo) |
| C-Mitral regurgitation |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| O-Ectopia lentis |
| O-Flat cornea (<42 dp) (m) |
| O-Increased axial length of globe (m) |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Characteristic facial appearance |
| S-Dolichostenomelia |
| S-High arched palate |
| S-Joint hypermobility (m) |
| S-Kyphosis |
| S-Lordosis |
| S-Pectus carinatum (M)(2) |
| S-Plain pes planus (M)(1) |
| S-Protusio acetabulæ (M)(2) |
| 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. |