| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3095G>A | p.Cys1032Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TAC | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #11 | Disulfide bonds 1032-1044 (C1) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Csp6 I, Rsa I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD05LON F0024 I01 | Proband | Male | de novo | 3 months | 4 months | U.K. |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 0,25 |
| C-Mitral valve prolapse | 0,25 |
| C-Tricuspid valve prolapse | 0,25 |
| CF-Blue sclerae | 0,25 |
| CF-Dolichocephaly | 0,25 |
| CF-Down-slanting palpebral fissures | 0,25 |
| CF-Retrognathia | 0,25 |
| O-Ectopia lentis | 0,25 |
| O-Iridodonesis | 0,25 |
| O-Megalocornea | 0,25 |
| O-Spherophakia | 0,25 |
| S-Arachnodactyly (M) | |
| S-Crumpled ears | 0,25 |
| S-High arched palate | 0,25 |
| S-Increased body length | 0,25 |
| S-Joint hypermobility (m) | 0,25 |
| S-Joint limitations | |
| S-Muscular hypotonia | 0,25 |
| SI-Loose, redundant skin | 0,25 |
| SI-Translucent skin | 0,25 |
| Reference ID | PubMed ID | Reference |
| 118 | 15287423 | Elcioglu NH, Akalin F, Elcioglu M, Comeglio P, Child AH. "Neonatal Marfan syndrome caused by an exon 25 mutation of the fibrillin-1 gene". Genet Couns. 2004;15(2):219-25. |