| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7421A>G | p.Tyr2474Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAC | Tyr | TGC | Cys | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #38 | conserved AA in cbEGF-like | No | 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) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA04NOR F0009 I1129 | Proband | NA | familial | Unknown | U.S.A |
| Phenotypic group | Disease |
| NA | AAA |
| Symptom |
| C-Asc. aortic dissection |
| S-Increased body length |
| Reference ID | PubMed ID | Reference |
| 101 | 11826022 | Korkko J, Kaitila I, Lonnqvist L, Peltonen L, Ala-Kokko L. "Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions". J Med Genet. 2002 Jan;39(1):34-41. |