| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.331T>C | p.Cys111Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | CGT | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #01 | Disulfide bonds 102-111 (C6) | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Dsa I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD01EDI F0005 I01 | Proband | Female | familial | ? (37 years old) | U.K. |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom |
| O-Cataract |
| O-Ectopia lentis |
| O-Glaucoma |
| O-Retinal degeneration |
| O-Retinal detachment |
| S-Arachnodactyly (M) |
| S-Characteristic facial appearance |
| S-Chest deformity (unspecified) |
| S-Joint hypermobility (m) |
| S-Joint limitations |
| Reference ID | PubMed ID | Reference |
| 41 | 9338581 | Hayward C, Porteous ME, Brock DJ. "Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations". Hum Mutat 1997;10(4):280-9 . |