| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7926delC | p.Phe2642LeufsX40 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTC | Phe | del1c | Fs. | Stop at 2681 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #42 |
| 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 |
| UKD05LON F0006 I26 | Proband | Female | de novo | 5 years old | U.K. |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Mitral valve prolapse | surgery |
| O-Ectopia lentis | |
| O-Increased axial length of globe (m) | |
| O-Iridodonesis | |
| O-Myopia | |
| S-Arachnodactyly (M) | |
| S-Chest deformity (unspecified) | |
| S-Foot deformity | |
| S-High arched palate | |
| S-Plain pes planus (M)(1) | |
| S-Reduced US/LS ratio <0.87 (M) | |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 83 | 11748851 | Comeglio P, Evans AL, Brice GW and Child AH. "Detection of six novel FBN1 mutations in british patients affected by Marfan syndrome". Human Mutation, 2001, 18(6): 546-7. |