| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8176C>T | p.Arg2726Trp | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGG | Arg | TGG | Trp | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| FibuCTDIII-like motif | No | 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) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 94 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA05HOU F0002 I01 | Proband | Male | familial | ? (13 years old) | U.S.A |
| Phenotypic group | Disease |
| Type I | Isolated skeletal features |
| Symptom |
| S-Arachnodactyly (M) |
| S-Increased body length |
| S-Pectus carinatum (M)(2) |
| S-Plain pes planus (M)(1) |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 16 | 7738200 | Milewicz DM, Grossfield J, Cao SN, Kielty C, Covitz W, Jewett T. "A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome". J Clin Invest 1995 May;95(5):2373-8 . |