| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6565G>T | p.Glu2189X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | TAA | Stop | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #33 | Ca2+ binding | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Mse I Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA16ROC F0001 I0001 | Proband | NA | NA | U.S.A. |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 198 | 19309803 | Ellison J. "Novel human pathological mutations. Gene symbol: FBN1. Disease: Marfan syndrome". Hum Genet. 2009 Apr;125(3):338. |