| 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 |
| USA14ALL F0001 I0001 | Proband | Male | de novo | at birth | 4 days | U.S.A. |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral regurgitation | moderate |
| CF-Broad nasal bridge | |
| CF-Dolichocephaly | |
| S-Abnormal ears | |
| S-Arachnodactyly (M) | |
| S-High arched palate | |
| S-Joint limitations | |
| S-Muscular hypotonia | |
| S-Plain pes planus (M)(1) | |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 170 | 18377451 | Sutherell J, Zarate Y, Tinkle BT, Markham LW, Cripe LH, Hyland JC, Witte D, Hopkin RJ, Hinton RB. "Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition". Congenit Heart Dis. 2007 Sep;2(5):342-6 |