| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7016G>A | p.Cys2339Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TAC | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP #07 | C in disulfide bonds 2339-2363 | 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) |
|---|---|---|
| 1 | 0.32 (non pathogenous) | 88 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER01BER F0053 I21 | Proband | Male | familial | 49 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom |
| O-Ectopia lentis |
| O-Flat cornea (<42 dp) (m) |
| S-Arachnodactyly (M) |
| S-Increased body length |
| 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. |