| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6285dup | p.Cys2096LeufsX9 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | ins1a | Fs. | Stop at 2104 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#06 | C in disulfide bonds 2070-2096 |
| At the mRNA level | On restriction map |
| Duplication in a stretch of nucleotides | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA03STA F0080 I1220 | Proband | NA | de novo | ? (22 years old) | U.S.A |
| Phenotypic group | Disease |
| Type II | Classical MFS |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 104 | 12068374 | Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U. "Premature termination mutations in FBN1: Distinct effects on Differencial allelic expression and on protein and clinical phenotypes". Am J Hum Genet, 2002, 71: 223-237. |