| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5161T>G | p.Cys1721Gly | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | GGT | Gly | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#05 | C in disulfide bonds 1721-1748 | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Nla IV Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| JAP04KOB F0001 I0001 | Proband | Female | de novo | JAPAN |
| Phenotypic group | Disease |
| NA | Geleophysic dysplasia |
| Symptom | Severity | Age |
| C-Aortic insufficiency | 1,75 | |
| C-Mitral regurgitation | 1,75 | |
| C-Pulmonary valve insufficiency | 1,75 | |
| CF-Hypertelorism | 0,9 | |
| CNS-Developmental delay | 0,9 | |
| S-Characteristic facial appearances | 2 | |
| S-Joint limitations | wrist | 0,9 |
| SI-Thickened skin | 0,9 |
| Reference ID | PubMed ID | Reference |
| 245 | 23124041 | Lee T, Takeshima Y, Okizuka Y, Hamahira K, Kusunoki N, Awano H, Yagi M, Sakai N, Matsuo M, Iijima K. "A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1". Gene. 2013 Jan 10;512(2):456-9. |