| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3163T>G | p.Cys1055Gly | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | GGT | Gly | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #11 | Disulfide bonds 1055-1068 (C5) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none 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 |
| AUS01NAD F0003 I05 | Proband | Female | de novo | at birth | 2 months | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | moderate |
| C-Asc. aortic dilatation | |
| C-Mitral regurgitation | moderate |
| C-Mitral valve prolapse | |
| C-Tricuspid valve prolapse | moderate |
| CNS-Enlarged cisterna magna | |
| L-Hemidiaphragm eventration | |
| O-Hypoplastic iris (m) | |
| S-Abnormal ears | |
| S-Arachnodactyly (M) | |
| S-Joint limitations | |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 36 | 8863159 | Ades LC, Haan EA, Colley AF, Richard RI. "Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome". J Med Genet 1996 Aug;33(8):665-71 . |