| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3668G>A | p.Cys1223Tyr | 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 #15 | Disulfide bonds 1223-1236 (C5) | 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 |
| USA01BAL F0029 I01 | Proband | Female | de novo | ? (7 years old) | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS + |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| CF-Craniosynostosis |
| CF-Down-slanting palpebral fissures |
| CNS-Developmental delay |
| O-Ectopia lentis |
| O-Myopia |
| S-Abnormal ears |
| S-Arachnodactyly (M) |
| S-High arched palate |
| S-Infantile hypotonia |
| S-Joint hypermobility (m) |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 29 | 8563763 | Sood S, Eldadah ZA, Krause WL, McIntosh I, Dietz HC. "Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome". Nat Genet 1996 Feb;12(2):209-11 . |