| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6231dup | p.His2078SerfsX27 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAC | His | ins1a | Fs. | Stop at 2104 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#06 | C-Term MMPs site |
| At the mRNA level | On restriction map |
| One base duplication | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER01BER F0025 I30 | Proband | Male | familial | 32 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| O-Ectopia lentis |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Increased body length |
| S-Joint hypermobility (m) |
| S-Pectus carinatum (M)(2) |
| S-Plain pes planus (M)(1) |
| Reference ID | PubMed ID | Reference |
| 95 | 12203992 | Katzke S, Booms P, Tiecke F, Palz M, Pletschacher A, Turkmen S, Neumann LM, Pregla R, Leitner C, Schramm C, Lorenz P, Hagemeier C, Fuchs J, Skovby F, Rosenberg T, Robinson PN. "TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies". Hum Mutat. 2002 Sep;20(3):197-208. |