| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1590delA | p.Gly531ValfsX28 | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | del1c | Fs. | Stop at 558 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Sm3,CH |
| 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 |
| 04-BR01-R01P- | Proband | Male | 24 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 19 | 9361035 | Debelenko, L. V, Brambilla, E., Agarwal, S. K., Swalwell, J. I., Kester, M. B., Lubensky, I. A., ? Emmert-Buck, M. R. (1997). Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung. Human Molecular Genetics, 6(13), 2285?90. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9361035 |