| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.548G>C | p.Trp183Ser | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGG | Trp | TCG | Ser | 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): 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 |
| 02-BE18-N01D- | Proband | Female | 17 |
| Phenotypic group | Disease |
| Strong | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 6 | 9463336 | Bassett, J. H., Forbes, S. A., Pannett, A. A., Lloyd, S. E., Christie, P. T., Wooding, C., Thakker, R. V. (1998). Characterization of mutations in patients with multiple endocrine neoplasia type 1. American Journal of Human Genetics, 62(2), 232?44. doi:10.1086/301729 |