| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7726C>T | p.Arg2576Cys | Homozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGC | Arg | TGC | Cys | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #41 | 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) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA20SAN F0001 I0001 | Proband | Female | familial | MEXICO |
| Phenotypic group | Disease |
| NA | Severe MFS |
| Symptom | Severity | Age |
| C-Aortic insufficiency | 20 | |
| C-Asc. aortic dilatation | ||
| C-Asc. aortic dissection | surgery | 20 |
| C-Mitral valve prolapse | ||
| CF-Dolichocephaly | 18 | |
| CF-Down-slanting palpebral fissures | 18 | |
| CF-Hypertelorism | 18 | |
| CNS-Lombosacral meningocele | ||
| CNS-Lumbosacral dural ectasia | ||
| O-Ectopia lentis | ||
| O-Glaucoma | ||
| O-Lens extraction | ||
| S-Arachnodactyly (M) | ||
| S-Characteristic facial appearance | 18 | |
| S-Joint limitations | mild | 18 |
| S-Kyphosis | 18 | |
| S-Pectus carinatum (M)(2) | ||
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 252 | 23278365 | Hogue J, Lee C, Jelin A, Strecker M, Cox V, Slavotinek A. "Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype". Clin Genet. 2013 Oct;84(4):392-3. |