| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2326T>G | p.Cys776Gly | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | GGT | Gly | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #08 | Disulfide bonds 776-790 (C2) | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): BsaJ I, Sty I 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 F0038 I37 | Proband | Male | familial | 19 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| O-Ectopia lentis |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Enophthalmos (m) |
| S-Increased body length |
| S-Joint hypermobility (m) |
| S-Pectus excavatum moderate (m)(1) |
| 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. |