| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5284G>A | p.Gly1762Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGT | Gly | AGT | Ser | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Yes, non coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Age I, Hpa II, Msp I |
| 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 |
| FRA02PAR F0017 I0001 | Proband | NA | de novo | RUSSIA |
| Phenotypic group | Disease |
| NA | Geleophysic dysplasia |
| Symptom | Age |
| C-Mitral valve prolapse | 18 |
| Reference ID | PubMed ID | Reference |
| 200 | 21683322 | Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper P…, Kitoh H, Krakow D, Lynch SA, Le Merrer M, M*garbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. "Mutations in the TGF-beta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias". Am J Hum Genet. 2011 Jul 15;89(1):7-14. |