| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4930C>T | p.Arg1644X | 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 #23 | 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 |
| AUS01NAD F0020 I08 | Proband | Female | de novo | at 13 years old | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Asc. aortic dilatation |
| O-Coloboma |
| S-Arachnodactyly (M) |
| S-Characteristic facial appearance |
| S-Crowding teeth (m) |
| S-High arched palate |
| S-Joint limitations |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 114 | 14695540 | Biggin A, Holman K, Brett M, Bennetts B, Ades L. "Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy". Hum Mutat. 2004 Jan;23(1):99. |