| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3256T>C | p.Cys1086Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | CGT | Arg | T->C | 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 |
| USA13PRO F0001 I0001 | Proband | Female | de novo | at birth | 2 months | U.S.A. |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral regurgitation | mild |
| CF-Deep set eyes | |
| CF-Dolichocephaly | |
| CF-Down-slanting palpebral fissures | |
| O-Ectopia lentis | bilateral |
| O-Iridodonesis | bilateral |
| S-Abnormal ears | |
| S-Arachnodactyly (M) | |
| S-High arched palate | |
| S-Joint hypermobility (m) | |
| S-Joint limitations | |
| S-Muscular hypotonia | |
| S-Scoliosis > 20° (M)(1) | |
| S-Scoliosis > 20° (M)(1) | |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 169 | 18379569 | Kochilas L, Gundogan F, Atalay M, Bliss JM, Vatta M, Pena LS, Abuelo D. "A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome". J Perinatol. 2008 Apr;28(4):303-5. |