| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5368C>T | p.Arg1790X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGA | Arg | TGA | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #25 | Ca2+ binding | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): AlwN I Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CHI01HKO F0014 I0001 | Proband | NA | NA | CHINA |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| Clinical data will be implemented as soon as possible |
| Reference ID | PubMed ID | Reference |
| 181 | 19533785 | Chung BH, Lam ST, Tong TM, Li SY, Lun KS, Chan DH, Fok SF, Or JS, Smith DK, Yang W, Lau YL. "Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes". Am J Med Genet A. 2009 Jul;149A(7):1452-9. |