| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1252G>A | p.Asp418Asn | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | AAC | Asn | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,Pem,NM,RP,HD,CH | Yes, non coding strand | Yes |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0 | - | 35 (Polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 04-SI18-J05A- | Relative | Male | 61 |
| Phenotypic group | Disease |
| Moderate | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 4 | 9241276 | Heppner, C., Kester, M. B., Agarwal, S. K., Debelenko, L. V, Emmert-Buck, M. R., Guru, S. C., ? Marx, S. J. (1997). Somatic mutation of the MEN1 gene in parathyroid tumours. Nature Genetics, 16(4), 375?8. doi:10.1038/ng0897-375 |