| 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 |
| JAP01YOK F0019 I0001 | Proband | NA | NA | JAPAN |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 149 | 16835936 | Sakai H, Visser R, Ikegawa S, Ito E, Numabe H, Watanabe Y, Mikami H, Kondoh T, Kitoh H, Sugiyama R, Okamoto N, Ogata T, Fodde R, Mizuno S, Takamura K, Egashira M, Sasaki N, Watanabe S, Nishimaki S, Takada F, Nagai T, Okada Y, Aoka Y, Yasuda K, Iwasa M, Kogaki S, Harada N, Mizuguchi T, Matsumoto N. "Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes". Am J Med Genet A. 2006 Aug 15;140(16):1719-25. |