| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3767delA | p.Asn1256IlefsX20 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAT | Asn | del1b | Fs. | Stop at 1275 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #16 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Deletion in a stretch of nucleotides | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA03STA F0073 I1439 | Proband | NA | familial | ? (38 years old) | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Aortic surgery |
| C-Asc. aortic dilatation |
| C-Asc. aortic dissection |
| S-Arachnodactyly (M) |
| S-Crowding teeth (m) |
| S-High arched palate |
| S-Joint hypermobility (m) |
| S-Joint limitations |
| S-Pectus carinatum (M)(2) |
| SI-Significant striae atrophicae (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. |