| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1579C>T | p.Arg527X | 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 |
| Sm3,CH | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| New restriction site(s): Bsu36 I Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-EU26-S25L- | Relative | Female | 45 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 25 | 12016470 | Perrier, N. D., Villablanca, A., Larsson, C., Wong, M., Ituarte, P., Teh, B. T., & Clark, O. H. (2002). Genetic Screening for MEN1 Mutations in Families Presenting with Familial Primary Hyperparathyroidism. World Journal of Surgery, 26(8), 907?913. doi:10.1007/s00268-002-6617-9 |