| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3215A>G | p.Asp1072Gly | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | GGC | Gly | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #12 | Ca2+ binding | Yes, non coding strand | 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 |
| USA05HOU F0009 I182 | Proband | NA | de novo | U.S.A |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Asc. aortic dilatation | surgery |
| C-Mitral regurgitation | |
| C-Mitral valve prolapse | |
| C-Pulmonary art. dilatation | |
| CF-Dolichocephaly | |
| CF-Micrognathia | |
| O-Iridodonesis | |
| O-Myopia | |
| S-Abnormal ears | |
| S-Arachnodactyly (M) | |
| S-Characteristic facial appearance | |
| S-Joint hypermobility (m) | |
| S-Joint limitations | |
| S-Pectus excavatum moderate (m)(1) |
| Reference ID | PubMed ID | Reference |
| 26 | 8882780 | Putnam EA, Cho M, Zinn AB, Towbin JA, Byers PH, Milewicz DM. "Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene". Am J Med Genet 1996 Mar 29;62(3):233-42 . |