| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3458G>A | p.Cys1153Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TAT | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #13 | Disulfide bonds 1140-1153 (C6) | 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) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| AUS01NAD F0004 I04 | Proband | Male | NA | at 3 years old | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Classical MFS + |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral valve prolapse | |
| CF-Micrognathia | |
| CNS-Developmental delay | |
| CNS-Verbal expression pb | |
| O-Amblyopia | |
| O-Astigmatism | |
| O-Hypoplastic iris (m) | |
| O-Myopia | |
| S-Abnormal ears | |
| S-Arm span/height >1.05 (M) | |
| S-Characteristic facial appearance | |
| S-Chest deformity (unspecified) | |
| S-Increased body length | |
| S-Joint hypermobility (m) | |
| S-Joint limitations | |
| S-Muscular hypotonia | |
| SI-Inguinal hernia | bilateral |
| SI-Loose, redundant skin | |
| SI-Other herniae | ombilical |
| 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 . |