| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5314G>T | p.Glu1772X | 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 |
| cb EGF-like #25 | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Cfr10 I Lost restriction site(s): BstK I, Dsa V, ScrF I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD07WIL F0045 I0001 | Proband | NA | NA | U.K. |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| Clinical data will be implemented as soon as possible |
| Reference ID | PubMed ID | Reference |
| 157 | 17627385 | Howarth R, Yearwood C, Harvey JF. "Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory". Genet Test. 2007 Summer;11(2):146-52. |