| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7454A>T | p.Asp2485Val | Homozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | GTT | Val | A->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #39 | 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): none Lost restriction site(s): Bgl II, Dpn I, Dpn II, Mbo I, Sau3A I |
| 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 |
| NET03LEI F0002 I0002 | Relative | Female | familial | TURKEY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | surgery | 14 |
| C-Mitral valve prolapse | 22 | |
| CF-Down-slanting palpebral fissures | 18 | |
| L-Spontaneous pneumothorax | 16 | |
| O-Ectopia lentis | bilateral | 3 |
| O-Ectopia lentis | surgery | 3 |
| S-Characteristic facial appearance | 22 | |
| S-Chest deformity (unspecified) | 18 | |
| S-High arched palate | 18 | |
| S-Plain pes planus (M)(1) | bilateral | 18 |
| S-Reduced extension of the elbows (<170°)(M)(1) | 18 | |
| SI-Inguinal hernia | Surgery | |
| SI-Significant striae atrophicae (m)(1) | chest, shoulders, hips and lower back | 18 |
| Reference ID | PubMed ID | Reference |
| 270 | 18354149 | Hilhorst-Hofstee Y, Kroft LJ, Pals G, van Vugt JP, Overweg-Plandsoen WC. "Intracranial hypertension in 2 children with marfan syndrome". J Child Neurol. 2008 Aug;23(8):954-5. |