| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.435C>G | p.Ser145Arg | Heterozygous | LIKELY CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGC | Ser | AGG | Arg | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju, Sm,NM,HD | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): Alu I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0 | - | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 02-PI18-C01R- | Relative | Female |
| Phenotypic group | Disease |
| asymptomatic | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 20 | 9766672 | Molecular Biology and Genetics - Articles: Mutation of the MENIN Gene in Sporadic Pancreatic Endocrine Tumors Eric H. Wang, Sam A. Ebrahimi, Allan Y. Wu, Carol Kashefi, Edward Passaro, Jr., and Mark P. Sawicki Cancer Res October 1, 1998 58:4417-4420 |