| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3713A>G | p.Asp1238Gly | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | GGC | Gly | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #16 | Ca2+ binding | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| First nucleotide of the exon, cDNA not tested | New restriction site(s): Cfr10 I, Hpa II, Msp I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER01BER F0008 I35 | Proband | Female | familial | at 10 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral valve prolapse | |
| CF-Dolichocephaly | |
| O-Myopia | mild |
| S-Arachnodactyly (M) | |
| S-Chest deformity (unspecified) | |
| S-High arched palate | |
| S-Increased body length | |
| S-Joint hypermobility (m) | |
| S-Scoliosis > 20° (M)(1) |
| 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. |