| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1622G>A | p.Cys541Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TAC | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #04 | Disulfide bonds 541-555 (C2) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): BspW I |
| 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 |
| GER03HAN F0094 I0035 | Proband | Male | familial | 31 years old | 31 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 31 |
| C-Asc. aortic dilatation | 31 |
| S-Arachnodactyly (M) | 31 |
| S-Pectus excavatum moderate (m)(1) | 31 |
| Reference ID | PubMed ID | Reference |
| 185 | 18925407 | Klintschar M, Bilkenroth U, Arslan-Kirchner M, Schmidtke J, Stiller D. "Marfan syndrome: clinical consequences resulting from a medicolegal autopsy of a case of sudden death due to aortic rupture". Int J Legal Med. 2009 Jan;123(1):55-8. |