| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1432A>T | p.Lys478X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAA | Lys | TAA | Stop | A->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #04 | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Dde I Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0190 I0229 | Proband | Female | familial | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| S-Characteristic facial appearance |
| S-Crowding teeth (m) |
| S-Dolichostenomelia |
| S-High arched palate |
| S-Increased body length |
| S-Joint hypermobility (m) |
| S-Reduced US/LS ratio <0.87 (M) |
| 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. |