| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.133G>A | p.Glu45Lys | Heterozygous | LIKELY 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 |
| Sm, 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 |
| 04-LA14-T08I- | Proband | Male | 31 |
| Phenotypic group | Disease |
| Moderate | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 36 | 12746426 | Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients. Journal of Medical Genetics. 2003;40(5):e72. doi:10.1136/jmg.40.5.e72. Cebrian A, Ruiz-Llorente S, Cascon A, et al. |