| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2341T>C | p.Cys781Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | CGT | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #08 | Disulfide bonds 769-781 (C3) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Mae II Lost restriction site(s): none |
| 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 F0039 I51 | Proband | Male | familial | 17 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| CF-Dolichocephaly |
| O-Ectopia lentis |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Crowding teeth (m) |
| S-High arched palate |
| S-Increased body length |
| S-Pectus carinatum (M)(2) |
| S-Reduced extension of the elbows (<170°)(M)(1) |
| S-Reduced US/LS ratio <0.87 (M) |
| SI-Inguinal hernia |
| 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. |