| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3157T>C | p.Cys1053Arg | 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 #11 | Disulfide bonds 1039-1053 (C4) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Hha I, HinP 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 F0237 I0276 | Proband | Female | de novo | 2 days | FRANCE |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral regurgitation | severe |
| CF-Retrognathia | |
| S-Abnormal ears | |
| S-Arachnodactyly (M) | |
| S-Characteristic facial appearance | |
| S-Joint hypermobility (m) | |
| S-Joint limitations |
| 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. |