| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3208G>C | p.Asp1070His | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | CAC | His | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #12 | Ca2+ binding | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| Last nucleotide of the exon, abnormal splicing demonstrated | New restriction site(s): none Lost restriction site(s): none |
| 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 |
| TAI02TAI F0001 I0001 | Proband | Female | de novo | at birth | 4 days | TAIWAN |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Asc. aortic dilatation |
| C-Congestive heart failure |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| CF-Dolichocephaly |
| S-Abnormal ears |
| S-Arachnodactyly (M) |
| S-Arm span/height >1.05 (M) |
| S-Joint hypermobility (m) |
| S-Joint limitations |
| S-Muscular hypotonia |
| S-Pectus excavatum moderate (m)(1) |
| Reference ID | PubMed ID | Reference |
| 195 | 20132243 | Chao SC, Chen JS, Tsai CH, Lin JM, Lin YJ, Sun HS. "Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome". Clin Genet. 2010 May;77(5):453-63. |