| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3083A>T | p.Asp1028Val | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | GTT | Val | A->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #11 | Ca2+ binding | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| First nucleotide of the exon, cDNA not tested | New restriction site(s): none Lost restriction site(s): EcoR V |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CHI01HKO F0002 I0001 | Proband | Male | de novo | at birth | 2 months | CHINA |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Asc. aortic dilatation |
| C-Pulmonary valve insufficiency |
| S-Arachnodactyly (M) |
| S-High arched palate |
| S-Joint limitations |
| S-Kyphosis |
| S-Pectus excavatum moderate (m)(1) |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 94 | 11780406 | Lo IF, Wong RM, Lam FW, Tong TM, Lam ST. "Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome". Chin Med J (Engl). 2001 May;114(5):473-6. |