| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1693C>T | p.Arg565X | 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 #04 | No | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Nla III Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA07POR F0001 I03 | Proband | NA | NA | ? | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| no clinical data |
| no clinical data |
| Reference ID | PubMed ID | Reference |
| 30 | - | Quan F, Sakai L, Popovich BW. "The identification of fibrillin mutations in Marfan syndrome using heteroduplex analysis and nucleotide sequencing". Am J Hum Genet 1995, 57 abstract 1936 . |