| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1_2113del | p.Met1? | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATG | Met | del2113a | Fs. | Stop at 13 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Signal peptide |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| SWI01ZUR F0052 I01 | Proband | NA | de novo | SWITZERLAND |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral regurgitation | |
| C-Mitral valve prolapse | |
| CF-Down-slanting palpebral fissures | |
| CF-Malar hypoplasia | |
| CF-Retrognathia | |
| O-Myopia >3 diopters (1) | severe |
| S-Arachnodactyly (M) | |
| S-Crowding teeth (m) | |
| S-High arched palate | |
| S-Pectus carinatum (M)(2) | |
| S-Reduced extension of the elbows (<170°)(M)(1) | |
| S-Reduced US/LS ratio <0.87 (M) |
| Reference ID | PubMed ID | Reference |
| 110 | 17492313 | M‡ty‡s G, Alonso S, Patrignani A, Marti M, Arnold E, Magyar I, Henggeler C, Carrel T, Steinmann B, Berger W. "Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome". Hum Genet. 2007 Aug;122(1):23-32. |