| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1_538del | p.Met1? | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATG | Met | del538a | Fs. | Stop at 10 | 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 |
| USA18SLC F0001 I0001 | Proband | Male | familial | U.S.A. |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | 27 | |
| C-Mitral valve prolapse | 27 | |
| C-Tricuspid valve prolapse | 27 | |
| CF-Retrognathia | micro | 27 |
| S-Arachnodactyly (M) | 27 | |
| S-Foot deformity | 27 | |
| S-Joint hypermobility (m) | 27 | |
| S-Pectus carinatum (M)(2) | 27 | |
| S-Pectus excavatum moderate (m)(1) | 27 | |
| S-Reduced US/LS ratio <0.87 (M) | 27 | |
| SI-Significant striae atrophicae (m)(1) | back and hips | 27 |
| Reference ID | PubMed ID | Reference |
| 227 | 21936929 | Furtado LV, Wooderchak-Donahue W, Rope AF, Yetman AT, Lewis T, Plant P, Bayrak-Toydemir P. "Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification". BMC Med Genet. 2011 Sep 21;12:119. |