| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3602G>A | p.Cys1201Tyr | 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 #15 | Disulfide bonds 1201-1212 (C1) | No | 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) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| TUR02ANK F0001 I0001 | Proband | Male | de novo | at birth | 22 days | TURKEY |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| C-Pulmonary valve insufficiency |
| C-Tricuspid valve prolapse |
| CF-Down-slanting palpebral fissures |
| CF-Micrognathia |
| S-Abnormal ears |
| S-Arachnodactyly (M) |
| S-High arched palate |
| S-Joint limitations |
| S-Muscular hypotonia |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 171 | 18388785 | Derbent M, Anuk D, Tarcan A, Varan B, Gurakan B, Tokel K. "Functional pulmonary atresia in a patient with neonatal Marfan syndrome caused by a c.3602G>A mutation in exon 29 of the FBN1 gene". Clin Dysmorphol. 2008 Apr;17(2):127-8. |