| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1904_1919del | p.Tyr635SerfsX78 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAC | Tyr | del16b | Fs. | Stop at 712 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #06 | Ca2+ binding |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER03HAN F0012 I05 | Proband | Female | NA | 30 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom | Severity |
| C-Aortic insufficiency | |
| C-Asc. aortic dilatation | severe |
| no clinical data | |
| S-Joint hypermobility (m) | |
| S-Pectus excavatum moderate (m)(1) |
| Reference ID | PubMed ID | Reference |
| 107 | 12402346 | Rommel K, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. "Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations". Hum Mutat. 2002 Nov;20(5):406-7. |