| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2293G>A | p.Asp765Asn | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | AAT | Asn | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #08 | Ca2+ binding | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| Deletion of 4bp (exon 18) | New restriction site(s): Ssp I Lost restriction site(s): Mse I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD09SAL F0009 I0001 | Proband | NA | NA | U.K. |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Severity | Age |
| C-Aortic insufficiency | 33 | |
| C-Asc. aortic dilatation | 33 | |
| O-Cataract | bilateral | 33 |
| O-Ectopia lentis | 33 | |
| S-Crowding teeth (m) | 33 | |
| S-High arched palate | 33 | |
| S-Joint dislocation | elbow | |
| S-Joint hypermobility (m) | ||
| S-Pectus carinatum (M)(2) |
| Reference ID | PubMed ID | Reference |
| 242 | 21895641 | Robinson DO, Lin F, Lyon M, Raponi M, Cross E, White HE, Cox H, Clayton-Smith J, Baralle D. "Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities". Clin Genet. 2012 Sep;82(3):223-31. |