| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1483C>T | p.Arg495X | 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 #03 | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Dpn I, Dpn II, Mbo I, Sau3A I, Taq I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| JAP06SUI P0002 I0001 | Proband | Male | familial | 34 years old (35 years old) | JAPAN |
| Phenotypic group | Disease |
| NA | LDS type I |
| Symptom |
| C-Arterial tortuosity |
| C-Asc. aortic dissection |
| CF-Exotropia |
| S-Pectus excavatum |
| Reference ID | PubMed ID | Reference |
| 33 | 17652900 | Akutsu K, Morisaki H, Takeshita S, Sakamoto S, Tamori Y, Yoshimuta T, Yokoyama N, Nonogi H, Ogino H, Morisaki T. "Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta receptor genes". Circ J. 2007 Aug;71(8):1305-9. |