| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.677C>G | p.Ser226X | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCA | Ser | TGA | Stop | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,Sm,NM,NMH,FA,HD | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): Dpn I, Dpn II, Mbo I, Sau3A I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 01-PO18-Y15L- | Proband | Female | 70 |
| Phenotypic group | Disease |
| 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 |