| 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 |
| USA01BAL F0033 I28 | Proband | Female | NA | ? (37 yars old) | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Mitral valve prolapse |
| C-Tricuspid valve prolapse |
| O-Ectopia lentis |
| S-Chest deformity (unspecified) |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 81 | 10874320 | Youil R, Toner TJ, Bull E, Bailey AL, Earl CD, Dietz HC, Montgomery RA. "Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII". Hum Mutat 2000 Jul;16(1):92-3. |