| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4750G>T | p.Glu1584X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | TAG | Stop | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#04 | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Rma I Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| BEL01GHE F0070 I0038 | Proband | NA | familial | Unknown | BELGIUM |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| no clinical data |
| 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. |