| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1061C>G | p.Thr354Ser | Heterozygous | Polymorphism? |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACC | Thr | AGC | Ser | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#01 | conserved AA in TGFBP | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| Not tested on cDNA (needed) | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.79 (non pathogenous) | 53 (Probable polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA22DAL F0003 I0001 | Proband | Female | familial | U.S.A. |
| Phenotypic group | Disease |
| NA | Ehlers-Danlos Syndrome |
| Symptom | Age |
| O-Myopia | 7 |
| S-Joint hypermobility (m) | 31 |
| SI-Easy bruising | 7 |
| SI-Significant striae atrophicae (m)(1) | 7 |
| SI-Soft skin | 31 |
| SI-Translucent skin | 31 |
| Reference ID | PubMed ID | Reference |
| 285 | 24664531 | Wilson GN. "Exome analysis of connective tissue dysplasia: Death and rebirth of clinical genetics?" Am J Med Genet A. 2014 May;164(5):1209-12. |