| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6431A>G | p.Asn2144Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAT | Asn | AGT | Ser | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #32 | Ca2+ binding | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Csp6 I, Rsa I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| JAP07TOK F0001 I0001 | Proband | Female | NA | JAPAN |
| Phenotypic group | Disease |
| NA | NA |
| Symptom | Severity | Age |
| C-Asc. aortic dissection | surgery | 42 |
| C-Mitral valve prolapse | surgery | 46 |
| S-Arachnodactyly (M) | ||
| S-Increased body length | 46 |
| Reference ID | PubMed ID | Reference |
| 151 | 18049824 | Shiga M, Saito M, Hattori M, Torii C, Kosaki K, Kiyono T, Suda N. "Characteristic phenotype of immortalized periodontal cells isolated from a Marfan syndrome type I patient". Cell Tissue Res. 2008 Feb;331(2):461-72. |