| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2097T>A | p.Cys699X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TGA | Stop | T->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#02 | C in disulfide bonds 684-699 | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Mae III Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| JAP01YOK F0007 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. |