| 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 |
| UKD02OXF F0001 I0733 | Proband | Male | familial | ? (20 years old) | U.K. |
| Phenotypic group | Disease |
| Type V | Incomplete MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| S-Arachnodactyly (M) | |
| S-High arched palate | surgery |
| S-Pectus carinatum (M)(2) |
| Reference ID | PubMed ID | Reference |
| 8 | 8504310 | Hewett DR, Lynch JR, Smith R, Sykes BC. "A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module". Hum Mol Genet 1993 Apr;2(4):475-7 . |