| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4356delT | p.Pro1453ArgfsX22 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTT | Leu | del1c | Fs. | Stop at 1474 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #21 |
| 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 F0152 I0191 | Proband | Female | familial | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Aortic insufficiency | |
| CNS-Lumbosacral dural ectasia | |
| O-Ectopia lentis | bilateral |
| O-Flat cornea (<42 dp) (m) | |
| O-Myopia | |
| 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-Plain pes planus (M)(1) | |
| S-Protusio acetabulæ (M)(2) | |
| S-Reduced US/LS ratio <0.87 (M) | |
| 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. |