| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2113G>A | p.Ala705Thr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GCG | Ala | ACG | Thr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#02 | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| Last nucleotide of the exon, cDNA not tested | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.16 (non pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| AUS01NAD F0001 I03 | Proband | Male | de novo | at 5 years old | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| O-Ectopia lentis | bilateral |
| O-Myopia | |
| O-Retinal degeneration | bilateral |
| S-Arachnodactyly (M) | |
| S-Arm span/height >1.05 (M) | |
| S-Chest deformity (unspecified) | |
| S-High arched palate | |
| S-Increased body length | |
| S-Joint hypermobility (m) | |
| S-Joint limitations | |
| S-Reduced US/LS ratio <0.87 (M) | |
| SI-Inguinal hernia | bilateral |
| 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 . |