| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3959G>A | p.Cys1320Tyr | 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 #17 | Disulfide bonds 1307-1320 (C6) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Csp6 I, Rsa I |
| 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 |
| USA21MIL F0001 I0001 | Proband | Male | familial | U.S.A. |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 0,1 |
| CF-Micrognathia | 0,2 |
| S-Abnormal ears | 0,2 |
| S-Arachnodactyly (M) | 0,2 |
| S-Characteristic facial appearance | 0,2 |
| S-High arched palate | 0,2 |
| Reference ID | PubMed ID | Reference |
| 257 | 23930893 | Elshershari H, Harris C. "Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition". Cardiol Young. 2013 Aug 9:1-4. |