| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7657C>T | p.Gln2553X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAG | Gln | TAG | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #40 | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Nhe I, Rma I Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| KOR01SEO F0042 I0001 | Proband | Male | de novo | S. KOREA |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | 6 | |
| C-Mitral regurgitation | 6 | |
| C-Mitral valve prolapse | 6 | |
| O-Ectopia lentis | left | 6 |
| S-Arm span/height >1.05 (M) | 6 |
| Reference ID | PubMed ID | Reference |
| 241 | 22942097 | Song YH, Kim GH, Yoo HW, Kim JB. "Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome". J Genet. 2012 Aug;91(2):233-5. |