| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1378C>T | p.Arg460X | Heterozygous | CAUSAL |
| 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 |
| Pem,NM,CH | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| New restriction site(s): Alu I, Dde I Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-CH01-P08L- | Relative | Male | 34 |
| Phenotypic group | Disease |
| Moderate | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 14 | 12652570 | Cr*pin, M., Escande, F., Pigny, P., Buisine, M.-P., Calender, A., Porchet, N., & Odou, M.-F. (2003). Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis. Electrophoresis, 24(1-2), 26?33. doi:10.1002/elps.200390023 |