| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2954G>A | p.Gly985Glu | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGG | Gly | GAG | Glu | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#03 | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Taq I 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 |
| FRA01BOU F0115 I0153 | Proband | Male | parental mosaicism | ? (16 years old) | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dissection |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| S-Arachnodactyly (M) |
| S-High arched palate |
| S-Increased body length |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 62 | 10441597 | Collod-Beroud G, Lackmy-Port-Lys M, Jondeau G, Mathieu M, Maingourd Y, Coulon M, Guillotel M, Junien C, Boileau C. "Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation". Am J Hum Genet 1999 Sep;65(3):917-21. |