| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6749A>G | p.Glu2250Gly | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | GGG | Gly | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #35 | 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) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER03HAN F0104 I0001 | Proband | Male | NA | GERMANY |
| Phenotypic group | Disease |
| NA | NA |
| Symptom | Age |
| O-Ectopia lentis | 18 |
| Reference ID | PubMed ID | Reference |
| 243 | 21883168 | Sheikhzadeh S, Kade C, Keyser B, Stuhrmann M, Arslan-Kirchner M, Rybczynski M, Bernhardt AM, Habermann CR, Hillebrand M, Mir T, Robinson PN, Berger J, Detter C, Blankenberg S, Schmidtke J, von Kodolitsch Y. "Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome". Clin Genet. 2012 Sep;82(3):240-7. |