| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4930C>T | p.Arg1644X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGA | Arg | TGA | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #23 | No | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Nla III Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA03STA F0076 I186 | Proband | NA | de novo | ? ("! years old) | U.S.A |
| Phenotypic group | Disease |
| Type II | Classical MFS |
| Symptom |
| C-Aortic surgery |
| C-Asc. aortic dilatation |
| C-Asc. aortic dissection |
| S-Pectus excavatum moderate (m)(1) |
| Reference ID | PubMed ID | Reference |
| 104 | 12068374 | Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U. "Premature termination mutations in FBN1: Distinct effects on Differencial allelic expression and on protein and clinical phenotypes". Am J Hum Genet, 2002, 71: 223-237. |