| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7966C>T | p.Gln2656X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAG | Gln | TAG | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #43 | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Fsp I, Hha I, HinP I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0136 I0175 | Proband | Female | familial | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral regurgitation | |
| C-Mitral valve prolapse | |
| O-Ectopia lentis | bilateral |
| S-Arachnodactyly (M) | |
| S-Crowding teeth (m) | |
| S-High arched palate | |
| S-Joint hypermobility (m) | |
| S-Scoliosis > 20° (M)(1) | surgery |
| SI-Significant striae atrophicae (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. |