| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5387G>A | p.Gly1796Glu | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGA | Gly | GAA | Glu | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #25 | conserved AA in cbEGF-like | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): EcoR I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| AUS01NAD F0026 I01 | Proband | Male | familial | ? (11 years old) | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Isolated skeletal features |
| Symptom |
| CF-Malar hypoplasia |
| CF-Micrognathia |
| S-Arm span/height >1.05 (M) |
| S-Characteristic facial appearance |
| S-Crowding teeth (m) |
| S-Increased body length |
| S-Joint hypermobility (m) |
| S-Kyphosis |
| S-Pectus excavatum moderate (m)(1) |
| S-Reduced US/LS ratio <0.87 (M) |
| Reference ID | PubMed ID | Reference |
| 103 | 11992479 | Ad*s L, Sreetharan D, Onikul E, Stockton V, Watson K, Holman KJ. "Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations". Am J Med Genet, 2002, 109: 261-270. |