| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4589G>A | p.Arg1530His | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGC | Arg | CAC | His | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#04 | conserved AA in TGFBP | No | Yes |
| 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) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 82 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD04OXF F0022 I0001 | Proband | Female | familial | U.K. |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Age |
| S-Arachnodactyly (M) | 16 |
| S-High arched palate | 16 |
| S-Joint hypermobility (m) | 16 |
| S-Plain pes planus (M)(1) | 16 |
| S-Reduced US/LS ratio <0.87 (M) | 16 |
| Reference ID | PubMed ID | Reference |
| 274 | 23794388 | Wilson BT1, Jensen SA, McAnulty CP, Brennan P, Handford PA. "Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1". Am J Med Genet A. 2013 Aug;161A(8):2047-51. |