| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2047C>T | p.Arg683X | Homozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGA | Arg | TGA | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CS789VI | Proband | U.K. |
| Phenotypic group | Disease |
| Symptom |
| Reference ID | Reference |
| 0 | Unpublished data |