| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.640G>A | p.Gly214Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGC | Gly | AGC | Ser | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Hybrid module#01 | Yes, non coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Eag I, Hae III |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 76 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CHI08BEI F0004 I0002 | Relative | Female | familial | CHINA |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 69 |
| O-Ectopia lentis | 69 |
| O-Myopia | 69 |
| O-Strabismus | 69 |
| S-Arachnodactyly (M) | 69 |
| S-Joint hypermobility (m) | 69 |
| S-Pectus excavatum moderate (m)(1) | 69 |
| SI-Significant striae atrophicae (m)(1) | 69 |
| SI-Skin hyperextensibility | 69 |
| Reference ID | PubMed ID | Reference |
| 232 | 22262941 | Dong J, Bu J, Du W, Li Y, Jia Y, Li J, Meng X, Yuan M, Peng X, Zhou A, Wang L. "A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family". Mol Vis. 2012;18:81-6. |