| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4621C>T | p.Arg1541X | 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 |
| TGFBP#04 | RGD | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): PaeR7 I, Taq I, Xho I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD04OXF F0005 I05 | Proband | NA | familial | ? (34 years old) | U.K. |
| Phenotypic group | Disease |
| Type I or II ? | Classical MFS + |
| Symptom | Severity |
| C-Asc. aortic dilatation | severe |
| L-Spontaneous pneumothorax | |
| O-Ectopia lentis | |
| S-Arm span/height >1.05 (M) | |
| S-Characteristic facial appearance | |
| S-Chest deformity (unspecified) | |
| S-High arched palate | |
| 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. |