| 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 |
| UKD03DUN F0002 I01 | Proband | NA | de novo | ? | U.K. |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| C-Congestive heart failure |
| C-Pulmonary art. dilatation |
| CF-Micrognathia |
| S-Arachnodactyly (M) |
| S-Camptodactyly |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 46 | 10404462 | Ng DK, Chau KW, Black C, Thomas TM, Boxer M. "Neonatal Marfan syndrome: a case report". J Paediatr Child Health1999 Jun;35(3):321-3. |