| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.931dup | p.Tyr311LeufsX37 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAC | Tyr | ins1b | Fs. | Stop at 347 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #02 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Duplication 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 |
| UKD04OXF F0002 I02 | Proband | NA | familial | ? (20 years old) | U.K. |
| Phenotypic group | Disease |
| Type I or II ? | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | moderate |
| C-Mitral valve prolapse | |
| O-Ectopia lentis | |
| S-Chest deformity (unspecified) | |
| S-Plain pes planus (M)(1) | |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 58 | 10647894 | Halliday D, Hutchinson S, Kettle S, Firth H, Wordsworth P, Handford PA. "Molecular analysis of eight mutations in FBN1". Hum Genet 1999 Dec;105(6):587-97. |