| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.758C>A | p.Ser253X | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCG | Ser | TAG | Stop | C->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Sm,NM,NMH,FA,HD | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): Rma I Lost restriction site(s): Alu I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-BA12-D09D- | Relative | Male | 36 |
| 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 |