| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2047T>C | p.Cys683Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | CGC | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#02 | C in disulfide bonds 661-683 | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER01BER F0031 I59 | Proband | Female | de novo | 16 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Incomplete description |
| O-Ectopia lentis |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Crowding teeth (m) |
| S-High arched palate |
| S-Increased body length |
| S-Joint hypermobility (m) |
| S-Scoliosis > 20° (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. |