| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3898A>G | p.Lys1300Glu | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAA | Lys | GAA | Glu | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #17 | Ca2+ binding | Yes, non coding strand | 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) | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER01BER F0009 I01 | Proband | Male | familial | ? (51 years old) | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral regurgitation |
| CF-Dolichocephaly |
| O-Ectopia lentis |
| O-Myopia |
| S-High arched palate |
| S-Increased body length |
| S-Joint hypermobility (m) |
| Reference ID | PubMed ID | Reference |
| 80 | 11175294 | Tiecke F, Katzke S, Booms P, Robinson P, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, H*vels-GŸrich H, Hagemeier C, Fuchs J, Skovby F, Rosenberg T. "Classic , early-onset severe and neonatal Marfan syndrome : Thirteen mutations and genotype-phenotype correlations in FBN1 exons 24-40". Eur J Hum Genet 2001, 9:13-21. |