| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3217G>A | p.Glu1073Lys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | AAA | Lys | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #12 | Ca2+ binding | Yes, non coding strand | Yes |
| 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) | 76 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA05HOU F0011 I249 | Proband | Male | de novo | 1 year old | U.S.A |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| O-Ectopia lentis |
| S-Arachnodactyly (M) |
| S-Increased body length |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 26 | 8882780 | Putnam EA, Cho M, Zinn AB, Towbin JA, Byers PH, Milewicz DM. "Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene". Am J Med Genet 1996 Mar 29;62(3):233-42 . |