| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.549G>C | p.Trp183Cys | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGG | Trp | TGC | Cys | G->C | Tv |
| 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): BsaJ I, BstK I, Dsa V, ScrF 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 |
| 04-EL11-M15R- | Proband | Male | 32 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 42 | 16699310 | Anlauf, M., Schlenger, R., Perren, A., Bauersfeld, J., Koch, C. A., Dralle, H., ? Kl*ppel, G. (2006). Microadenomatosis of the Endocrine Pancreas in Patients With and Without the Multiple Endocrine Neoplasia Type 1 Syndrome. The American Journal of Surgical Pathology, 30(5). Retrieved fromhttp://journals.lww.com/ajsp/Fulltext/2006/05000/Microadenomatosis_of_the_Endocrine_Pancreas_in.2.aspx |