| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1453C>T | p.Arg485Cys | Homozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGT | Arg | TGT | Cys | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #04 | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 94 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| NET04NIJ F0001 I0001 | Proband | Male | familial | ? (22 years old) | 23 | NETHERLAND |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity | Age |
| C-Aortic insufficiency | surgery | 22 |
| C-Desc. aortic dissection (thor. or abdo.) | surgery | 22 |
| C-Desc. aortic dissection (thor. or abdo.) | surgery | 22 |
| C-Mitral valve prolapse | 13 | |
| L-Spontaneous pneumothorax | 19 | |
| O-Ectopia lentis | bilateral | 1 |
| S-High arched palate | 22 | |
| S-Pectus excavatum moderate (m)(1) | 22 | |
| S-Scoliosis > 20° (M)(1) | mild | 22 |
| Reference ID | PubMed ID | Reference |
| 158 | 17568394 | de Vries BB, Pals G, Odink R, Hamel BC. "Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome". Eur J Hum Genet. 2007 Sep;15(9):930-5. |