| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6302C>A | p.Thr2101Lys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACG | Thr | AAG | Lys | C->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#06 | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Sty I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.90 (non pathogenous) | 88 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0122 I0160 | Proband | Male | familial | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| CNS-Lumbosacral dural ectasia |
| L-Apical blebs |
| L-Pulmonary emphysema |
| L-Spontaneous pneumothorax |
| O-Ectopia lentis |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Chest deformity (unspecified) |
| S-Crowding teeth (m) |
| S-Dolichostenomelia |
| S-High arched palate |
| S-Joint hypermobility (m) |
| S-Lordosis |
| S-Plain pes planus (M)(1) |
| S-Reduced US/LS ratio <0.87 (M) |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 64 | 12938084 | Collod-B*roud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, B*roud C, Boileau C. "Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database". Hum Mutat. 2003 Sep;22(3):199-208. |