| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3238delC | p.Leu1080SerfsX8 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTC | Leu | del1a | Fs. | Stop at 1087 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #12 | conserved AA in cbEGF-like |
| At the mRNA level | On restriction map |
| Deletion in a stretch of nucleotides | 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 F0159 I0198 | Proband | Female | familial | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Asc. aortic dilatation |
| C-Asc. aortic dissection |
| C-Mitral valve prolapse |
| CNS-Lumbosacral dural ectasia |
| O-Astigmatism |
| O-Flat cornea (<42 dp) (m) |
| S-Arachnodactyly (M) |
| S-Arm span/height >1.05 (M) |
| S-Characteristic facial appearance |
| S-Dolichostenomelia |
| S-High arched palate |
| S-Joint hypermobility (m) |
| S-Lordosis |
| S-Pectus carinatum (M)(2) |
| 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-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. |