| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1147G>A | p.Glu383Lys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | AAG | Lys | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#01 | Yes, non coding strand | Yes |
| At the mRNA level | On restriction map |
| Last nucleotide of the exon, cDNA not tested | New restriction site(s): Sty I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.31 (non pathogenous) | 94 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| BEL01GHE F0057 I2164 | Proband | Male | familial | 46 years old | BELGIUM |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Asc. aortic dissection |
| S-Arm span/height >1.05 (M) |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 89 | 11700157 | Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A. "Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome". Arch Intern Med. 2001 Nov 12;161(20):2447-54. |