| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.344C>G | p.Ser115Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCC | Ser | TGC | Cys | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #02 | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): BspW I, Nsi I Lost restriction site(s): Dpn I, Dpn II, Mbo I, Sau3A I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER01BER F0024 I10 | Proband | Female | de novo | 16 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | borderline |
| CF-Dolichocephaly | |
| O-Ectopia lentis | |
| S-Enophthalmos (m) | |
| S-Reduced extension of the elbows (<170°)(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. |