| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4365_4366delCT | p.Ile1455MetfsX16 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATC | Ile | del2c | Fs. | Stop at 1470 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #21 | conserved AA in cbEGF-like |
| At the mRNA level | On restriction map |
| No mechanism suspected | 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 F0003 I03 | Proband | NA | familial | U.K. |
| Phenotypic group | Disease |
| Type IV | Classical MFS + |
| Symptom | Severity |
| C-Asc. aortic dilatation | surgery |
| C-Mitral valve prolapse | |
| S-Arm span/height >1.05 (M) | |
| S-Characteristic facial appearance | |
| S-High arched palate | |
| 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. |