| 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 |
| ITA01FLO F0103 I0001 | Proband | Male | familial | ITALIA |
| Phenotypic group | Disease |
| NA | Lujan-Fryns syndrome |
| Symptom | Severity | Age |
| C-Tricuspid valve prolapse | 18 | |
| CF-Dolichocephaly | 18 | |
| CF-Down-slanting palpebral fissures | 18 | |
| CF-Exotropia | alternating | 18 |
| CF-Malar hypoplasia | 18 | |
| CF-Retrognathia | 18 | |
| CNS-Developmental delay | 18 | |
| O-Myopia | mild | 18 |
| OS-Epilepsy | 18 | |
| S-High arched palate | 18 | |
| S-Joint hypermobility (m) | moderate | 18 |
| S-Pectus carinatum (M)(2) | 18 | |
| S-Plain pes planus (M)(1) | 18 |
| Reference ID | PubMed ID | Reference |
| 97 | 15598221 | Buoni S, Zannolli R, Macucci F, Ansaldi S, Grasso M, Arbustini E, Fois A. "The FBN1 (R2726W) mutation is not fully penetrant". Ann Hum Genet. 2004 Nov;68(Pt 6):633-8. |