| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.969C>A | p.Tyr323X | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAC | Tyr | TAA | Stop | C->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,NF,Pem,NM,RP,FA,HD | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): Mae III Lost restriction site(s): Csp6 I, Rsa I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-HA13-M01R- | Proband | Female | 59 |
| 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 |