| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1021T>C | p.Trp341Arg | Heterozygous | LIKELY CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGG | Trp | CGG | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,NF,Pem,NM,RP,FA,HD | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): Ava I, Bcn I, Bcn I, Hpa II, Msp I, Nci I, Nci I, Sau96 I, Sma I, Xma I Lost restriction site(s): Stu I |
| 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 |
| 03-TE12-D05L- | Relative | Female | 24 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 9 | 12112656 | Wautot, V., Vercherat, C., Lespinasse, J., Chambe, B., Lenoir, G. M., Zhang, C. X., ? Calender, A. (2002). Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. Human Mutation, 20(1), 35?47. doi:10.1002/humu.10092 |