| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3993_3994dup | p.Asn1332ThrfsX82 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAC | Asn | ins2b | Fs. | Stop at 1413 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #18 | Yes, coding strand |
| At the mRNA level | On restriction map |
| Duplication of a repeated sequence | New restriction site(s): Dra III Lost restriction site(s): Nla III, Nsp I, Nsp7524 I, NspC I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0262 I0301 | Proband | Male | de novo | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Aortic insufficiency | moderate |
| C-Asc. aortic dissection | |
| C-Desc. aortic dilatation (thor or abdo) | |
| C-Mitral regurgitation | moderate |
| C-Mitral valve prolapse | surgery |
| CF-Malar hypoplasia | |
| O-Flat cornea (<42 dp) (m) | |
| O-Myopia >3 diopters (1) | severe |
| S-Arachnodactyly (M) | |
| S-Dolichostenomelia | |
| S-High arched palate | |
| S-Joint hypermobility (m) | |
| S-Pectus excavatum moderate (m)(1) | |
| S-Protusio acetabulæ (M)(2) | bilateral |
| S-Scoliosis > 20° (M)(1) | |
| SI-Inguinal hernia | |
| SI-Other herniae | ombilical |
| 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. |