| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2368T>A | p.Cys790Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | AGT | Ser | T->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #08 | Disulfide bonds 776-790 (C4) | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): AlwN I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 82 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| NET04NIJ F0004 I0010 | Relative | Male | familial | PAKISTAN |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Age |
| O-Ectopia lentis | 6 |
| O-Lens extraction | 6 |
| O-Myopia >3 diopters (1) | 6 |
| S-Arachnodactyly (M) | 6 |
| S-Characteristic facial appearance | 6 |
| S-Crowding teeth (m) | 6 |
| S-High arched palate | 6 |
| S-Increased body length | 6 |
| S-Joint hypermobility (m) | 6 |
| S-Long bone over growth | 6 |
| S-Plain pes planus (M)(1) | 6 |
| Reference ID | PubMed ID | Reference |
| 240 | 22876116 | Micheal S, Khan MI, Akhtar F, Weiss MM, Islam F, Ali M, Qamar R, Maugeri A, den Hollander AI. "Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome". Mol Vis. 2012;18:1918-26. |