| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1213C>T | p.Gln405X | Heterozygous | CAUSAL |
| 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 |
| Ju,Pem,NM,RP,HD,CH | Yes, coding strand | No |
| 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 |
| 04-RO04-J15H- | Relative | Male | 32 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 17 | 12791038 | Park, J.-H., Kim, I.-J., Kang, H. C., Lee, S.-H., Shin, Y., Kim, K.-H., ? Park, J.-G. (2003). Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders. Clinical Genetics, 64(1), 48?53. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12791038 |