| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5560C>T | p.Gln1854X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAA | Gln | TAA | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #27 | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Mse I Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0128 I0166 | Proband | Male | familial | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Asc. aortic dilatation |
| O-Ectopia lentis |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Arm span/height >1.05 (M) |
| S-Dolichostenomelia |
| S-Foot deformity |
| S-Joint hypermobility (m) |
| S-Pectus excavatum moderate (m)(1) |
| S-Scoliosis > 20° (M)(1) |
| SI-Significant striae atrophicae (m)(1) |
| SI-Skin hyperextensibility |
| 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. |