| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5679T>A | p.Asn1893Lys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAT | Asn | AAA | Lys | T->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #28 | Ca2+ binding | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.04 (pathogenous) | 86 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD01EDI F0012 I01 | Proband | Male | familial | ? (38 years old) | U.K. |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Asc. aortic dilatation |
| O-Ectopia lentis |
| S-Arachnodactyly (M) |
| S-Characteristic facial appearance |
| Reference ID | PubMed ID | Reference |
| 41 | 9338581 | Hayward C, Porteous ME, Brock DJ. "Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations". Hum Mutat 1997;10(4):280-9 . |