| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.535G>A | p.Glu179Lys | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | AAG | Lys | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,Sm,NMH,HD,NM | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0 | - | 41 (Polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-CH01-D10E- | Relative | Female | 64 |
| Phenotypic group | Disease |
| Moderate | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 40 | 11102994 | Weinhaeusel, A., Vierhapper, H., Schlegl, R., Wagner, T., Muhr, D., Scheuba, C., Niederle, B. and Haas, O. A. (2000), A novel mutation E179K of the MEN1 gene predisposes for multiple endocrine neoplasia-type 1 (MEN1) . Hum. Mutat., 16: 533. doi: 10.1002/1098-1004(200012)16:6<533::AID-HUMU22>3.0.CO;2-5 |