| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2986T>C | p.Cys996Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | CGT | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#03 | C in disulfide bonds 981-996 | No | 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 |
| UKD03DUN F0003 I01 | Proband | Male | de novo | U.K. |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Desc. aortic dissection (thor. or abdo.) | surgery |
| C-Mitral regurgitation | surgery |
| O-Ectopia lentis | |
| S-Arm span/height >1.05 (M) | |
| S-Characteristic facial appearance | |
| S-Chest deformity (unspecified) | |
| S-High arched palate | |
| S-Reduced US/LS ratio <0.87 (M) | |
| SI-Inguinal hernia | |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 67 | - | Dean J, Davidson C, Boxer M. "Marfan syndrome, MASS phenotype and chromosome 3". J Med Genet 1996 33: abstract 5030. |