| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3257G>A | p.Cys1086Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TAT | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #12 | Disulfide bonds 1074-1086 (C3) | 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) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| TUR01ANK F0001 I0001 | Proband | Male | parental mosaicism | TURKEY |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | ||
| C-Mitral regurgitation | mild | 0,25 |
| C-Mitral valve prolapse | ||
| C-Tricuspid valve prolapse | 0,25 | |
| CF-Blue sclerae | 0,25 | |
| CF-Deep set eyes | 0,25 | |
| CF-Dolichocephaly | ||
| CF-Down-slanting palpebral fissures | 0,25 | |
| L-Spontaneous pneumothorax | 0,33 | |
| O-Ectopia lentis | ||
| O-Iridodonesis | ||
| O-Megalocornea | ||
| S-Arachnodactyly (M) | 0,25 | |
| S-High arched palate | 0,25 | |
| S-Joint limitations | 0,25 | |
| S-Muscular hypotonia | 0,25 | |
| S-Pectus carinatum (M)(2) | mild | 0,25 |
| SI-Inguinal hernia | Surgery | 0,12 |
| SI-Loose, redundant skin | 0,25 |
| Reference ID | PubMed ID | Reference |
| 159 | 17366579 | Tekin M, Cengiz FB, Ayberkin E, Kendirli T, Fitoz S, Tutar E, Cift*i E, Conba A. "Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene". Am J Med Genet A. 2007 Apr 15;143(8):875-80. |