| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3037G>C | p.Gly1013Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGA | Gly | CGA | Arg | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#03 | conserved AA in TGFBP | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Hpa II, Msp I |
| 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 F0025 I01 | Proband | Male | de novo | early childhood | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Severity |
| C-Mitral valve prolapse | |
| C-Pulmonary art. dilatation | |
| C-Tricuspid valve prolapse | |
| O-Ectopia lentis | |
| S-Arachnodactyly (M) | |
| S-Characteristic facial appearance | |
| S-Chest deformity (unspecified) | |
| S-Joint limitations | |
| S-Muscular hypotonia | severe |
| Reference ID | PubMed ID | Reference |
| 77 | - | Ad*s L, Holman K, Watson K, Murrell M, Clarke J, Christodoulou J. "Characterisation of an FBN1 gene mutation, G1013R, in a child with neonatal Marfan syndrome (nMFS) and mitochondrial complex I (CI) deficiency". Am J Hum Genet, Abstract 2367. |