| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3973G>C | p.Glu1325Gln | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | CAA | Gln | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #18 | Ca2+ binding | Yes, non coding strand | 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) | 59 (Probable polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| AUS02WES F0012 I01 | Proband | NA | NA | ? (14 years old) | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| O-Ectopia lentis |
| O-Increased axial length of globe (m) |
| S-Characteristic facial appearance |
| S-High arched palate |
| S-Joint hypermobility (m) |
| S-Pectus carinatum (M)(2) |
| S-Pectus excavatum moderate (m)(1) |
| S-Plain pes planus (M)(1) |
| S-Reduced US/LS ratio <0.87 (M) |
| S-Scoliosis > 20° (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. |