| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.496T>A | p.Cys166Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | AGT | Ser | T->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like#03 | Disulfide bonds 154-166 (C4) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Cla I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 82 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| AUS01NAD F0011 I29 | Proband | Female | NA | at 5-6 years | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Asc. aortic dilatation |
| C-Tricuspid valve prolapse |
| CF-Dolichocephaly |
| O-Ectopia lentis |
| S-Characteristic facial appearance |
| S-High arched palate |
| S-Scoliosis > 20° (M)(1) |
| SI-Inguinal hernia |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 114 | 14695540 | Biggin A, Holman K, Brett M, Bennetts B, Ades L. "Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy". Hum Mutat. 2004 Jan;23(1):99. |