| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.497G>T | p.Cys166Phe | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TTT | Phe | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like#03 | Disulfide bonds 154-166 (C4) | 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 F0014 I01 | Proband | NA | de novo | ? | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS + |
| Symptom |
| C-Other artery aneurysm/dissection |
| no clinical data |
| Reference ID | PubMed ID | Reference |
| 21 | 7611299 | Nijbroek G, Sood S, McIntosh I, Francomano CA, Bull E, Pereira L, Ramirez F, Pyeritz RE, Dietz HC. "Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons". Am J Hum Genet 1995 Jul;57(1):8-21 . |