| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.65T>G | p.Leu22Arg | Heterozygous | LIKELY CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTG | Leu | CGG | Arg | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju, NM, RP | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): Cfr10 I, Hpa II, Msp I 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 |
| 04-AU07-F01N- | Proband | Female | 20 |
| Phenotypic group | Disease |
| Supporting | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 2 | 9215689 | Agarwal, S. K., Kester, M. B., Debelenko, L. V, Heppner, C., Emmert-Buck, M. R., Skarulis, M. C., ? Marx, S. J. (1997). Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Human Molecular Genetics, 6(7), 1169?75. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9215689 |