| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1363C>T | p.Gln455X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAG | Gln | TAG | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF precursor like | Yes, coding strand |
| At the mRNA level | On restriction map |
| New restriction site(s): Rma I Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| Gln455Stop | Proband | U.K. |
| Phenotypic group | Disease |
| Reference ID | Reference |
| 180 | Unpublished data |