| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3302A>G | p.Tyr1101Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAT | Tyr | TGT | Cys | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #12 | conserved AA in cbEGF-like | No | No |
| 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) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0273 I0312 | Proband | Male | de novo | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Aortic insufficiency | surgery |
| C-Asc. aortic dilatation | surgery |
| C-Asc. aortic dissection | surgery |
| C-Mitral regurgitation | surgery |
| C-Mitral valve prolapse | |
| CNS-Lumbosacral dural ectasia | |
| L-Spontaneous pneumothorax | |
| O-Ectopia lentis | surgery |
| O-Myopia | |
| S-Arachnodactyly (M) | |
| S-Characteristic facial appearance | |
| S-Crowding teeth (m) | |
| S-Dolichostenomelia | |
| S-High arched palate | |
| S-Joint limitations | |
| S-Pectus carinatum (M)(2) | |
| S-Plain pes planus (M)(1) | |
| S-Protusio acetabulæ (M)(2) | |
| SI-Other herniae | |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 145 | 19293843 | Stheneur C, Collod-B*roud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C. "Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene". Eur J Hum Genet. 2009 Sep;17(9):1121-8. |