| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1413G>A | p.Trp471X | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGG | Trp | TGA | Stop | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Pem,NM,CH | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-RO21-L01U- | Proband | Female | 45 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 32 | 10090472 | Mutch, M. G., Dilley, W. G., Sanjurjo, F., DeBenedetti, M. K., Doherty, G. M., Wells, S. A., Goodfellow, P. J. and Lairmore, T. C. (1999), Germline mutations in the multiple endocrine neoplasia type 1 gene: Evidence for frequent splicing defects. Hum. Mutat., 13: 175?185. doi: 10.1002/(SICI)1098-1004(1999)13:3<175::AID-HUMU1>3.0.CO;2-R |