| 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 |
| KOR01SEO F0027 I0001 | Proband | NA | NA | S. KOREA |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| Clinical data will be implemented as soon as possible |
| Reference ID | PubMed ID | Reference |
| 189 | 19863550 | Yoo EH, Woo H, Ki CS, Lee HJ, Kim DK, Kang IS, Park P, Sung K, Lee CS, Chung TY, Moon JR, Han H, Lee ST, Kim JW. "Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation". Clin Genet. 2010 Feb;77(2):177-82. |