| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3069G>C | p.Lys1023Asn | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | AAC | Asn | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Yes, non coding strand | 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) |
|---|---|---|
| 0.83 | 0.15 (non pathogenous) | 59 (Probable polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FIN01HEL F0004 I01 | Proband | Male | de novo | at birth | 20 hours | FINLAND |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Asc. aortic dilatation |
| C-Coronary arteries dilatation/dissection |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| C-Pulmonary art. dilatation |
| C-Tricuspid valve prolapse |
| CF-Blue sclerae |
| S-Arachnodactyly (M) |
| S-Characteristic facial appearance |
| S-Crumpled ears |
| S-Increased body length |
| S-Joint hypermobility (m) |
| S-Joint limitations |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 10 | 8136837 | Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L. "Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome". Nat Genet 1994 Jan;6(1):64-9 . |