| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1531delT | p.Tyr511ThrfsX68 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAC | Tyr | del1a | Fs. | Stop at 578 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #03 | 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 F0105 I0001 | Proband | Female | NA | GERMANY |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 243 | 21883168 | Sheikhzadeh S, Kade C, Keyser B, Stuhrmann M, Arslan-Kirchner M, Rybczynski M, Bernhardt AM, Habermann CR, Hillebrand M, Mir T, Robinson PN, Berger J, Detter C, Blankenberg S, Schmidtke J, von Kodolitsch Y. "Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome". Clin Genet. 2012 Sep;82(3):240-7. |