| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1522C>T | p.Gln508X | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAG | Gln | TAG | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Sm3,CH | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): Rma I Lost restriction site(s): BstN I, EcoR II, Hae III |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 02-DE22-F18A- | Proband | Female | 55 |
| Phenotypic group | Disease |
| Moderate | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 5 | 10664520 | Morelli, A., Falchetti, A., Martineti, V., Becherini, L., Mark, M., Friedman, E., & Brandi, M. L. (2000). MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1. European Journal of Endocrinology / European Federation of Endocrine Societies, 142(2), 131?7. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10664520 |