| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6919T>C | p.Cys2307Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | CGC | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like#36 | Disulfide bonds 2295-2307 (C3) | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Aha II, Ban I, Bbe I, Ehe I, Kas I, Nar I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0144 I0183 | Proband | Female | familial | Unknown | 61 years old | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Aortic insufficiency |
| C-Asc. aortic dilatation |
| C-Desc. aortic dilatation (thor or abdo) |
| S-Arachnodactyly (M) |
| S-Dolichostenomelia |
| S-Joint hypermobility (m) |
| S-Pectus carinatum (M)(2) |
| S-Plain pes planus (M)(1) |
| S-Reduced US/LS ratio <0.87 (M) |
| S-Scoliosis > 20° (M)(1) |
| SI-Significant striae atrophicae (m)(1) |
| SI-Varicose veins |
| 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. |