| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.184C>T | p.Arg62Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGT | Arg | TGT | Cys | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| 4-cys motif LTBP-like | No | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Nla III Lost restriction site(s): Mae II |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER01BER F0021 I15 | Proband | Male | familial | 25 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| O-Ectopia lentis |
| S-Arachnodactyly (M) |
| S-Enophthalmos (m) |
| S-Increased body length |
| S-Plain pes planus (M)(1) |
| SI-Significant striae atrophicae (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. |