| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.221T>A | p.Leu74X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTA | Leu | TAA | Stop | T->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| 4-cys motif LTBP-like | Yes, coding strand | No |
| 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 |
| USA19NAS F0001 I0001 | Proband | Male | familial | U.S.A. |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | surgery | 42 |
| L-Spontaneous pneumothorax | surgery | 35 |
| O-Astigmatism | 42 | |
| O-Flat cornea (<42 dp) (m) | 42 | |
| O-Glaucoma | 42 | |
| O-Myopia >3 diopters (1) | 42 | |
| S-Chest deformity (unspecified) | 42 | |
| S-Joint hypermobility (m) | 42 | |
| S-Scoliosis > 20° (M)(1) | 42 |
| Reference ID | PubMed ID | Reference |
| 247 | 23444230 | Kuchtey J, Chang TC, Panagis L, Kuchtey RW. "Marfan syndrome caused by a novel FBN1 mutation with associated pigmentary glaucoma". Am J Med Genet A. 2013 Apr;161(4):880-3. |