| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.945delT | p.Pro317LeufsX13 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | del1c | Fs. | Stop at 329 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #02 | Disulfide bonds 315-328 (C5) |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| KOR01SEO F0008 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. |