| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1308G>A | p.Trp436X | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGG | Trp | TGA | Stop | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Pem,NM,RP,HD,CH | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): Hae III |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-CA18-M09C- | Relative | Male | 50 |
| Phenotypic group | Disease |
| Moderate | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 23 | 9709985 | Menin Mutations In MEN1 Patients Bernhard Mayr, Georg Brabant, and Alexander von zur MŸhlen The Journal of Clinical Endocrinology & Metabolism 1998 83:8, 3004-3005 |