| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4485delC | p.Thr1496ArgfsX24 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACC | Thr | del1c | Fs. | Stop at 1519 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #22 |
| 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 |
| UKD04OXF F0004 I04 | Proband | NA | familial | ? (31 years old) | U.K. |
| Phenotypic group | Disease |
| NA | Classical MFS + |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| S-Arachnodactyly (M) |
| S-Arm span/height >1.05 (M) |
| S-Chest deformity (unspecified) |
| S-High arched palate |
| S-Scoliosis > 20° (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. |