| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.50delT | p.Leu17X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTA | Leu | del1b | Fs. | Stop at 17 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Signal peptide |
| At the mRNA level | On restriction map |
| Deletion in a stretch of nucleotides | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0213 I0252 | Proband | Female | familial | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Mitral regurgitation | |
| C-Mitral valve prolapse | |
| CNS-Lumbosacral dural ectasia | |
| O-Ectopia lentis | |
| O-Myopia >3 diopters (1) | severe |
| S-Arachnodactyly (M) | |
| S-Arm span/height >1.05 (M) | |
| S-Crowding teeth (m) | |
| S-Dolichostenomelia | |
| S-High arched palate | |
| S-Joint hypermobility (m) | |
| S-Protusio acetabulæ (M)(2) | bilateral |
| 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. |