| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.134A>G | p.Glu45Gly | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | GGG | Gly | A->G | 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 | - | 76 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 02-DE13-K01D- | Proband | Female | 27 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 37 | 11216636 | Large and asymptomatic pancreatic islet cell tumor in a patient with multiple endocrine neoplasia type 1 Makoto Sato , Minoru Kihara, Akiko Nishitani, Koji Murao, Shoji Kobayashi, Akira Miyauchi, Jiro Takahara |