| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.88G>T | p.Glu30X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | TAG | Stop | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| NH2 unique region | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD07WIL F0091 I0001 | Proband | Male | familial | ? (31 years old) | U.K. |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom | Age |
| C-Asc. aortic dissection | 31 |
| O-Ectopia lentis | 31 |
| S-Incomplete description | 31 |
| Reference ID | PubMed ID | Reference |
| 178 | 19161152 | Turner CL, Emery H, Collins AL, Howarth RJ, Yearwood CM, Cross E, Duncan PJ, Bunyan DJ, Harvey JF, Foulds NC. "Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy". Am J Med Genet A. 2009 Feb;149A(2):161-70. |