| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1628C>G | p.Ser543X | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCA | Ser | TGA | Stop | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Sm3,CH | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): Nla III Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 04-EM01-F12A- | Relative | Female | 28 |
| Phenotypic group | Disease |
| Supporting | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 33 | 11034102 | Molecular Biology and Genetics: Screening of the MEN1 Gene and Discovery of Germ-Line and Somatic Mutations in Apparently Sporadic Parathyroid Tumors Shinya Uchino, Shiro Noguchi, Mari Sato, Hiroto Yamashita, Hiroyuki Yamashita, Shin Watanabe, Tsukasa Murakami, Masakatsu Toda, Akira Ohshima, Tetsuhiro Futata, Tsunenori Mizukoshi, Eisuke Koike, Keisuke Takatsu, Kyoichi Terao, Shigeko Wakiya, Miho Nagatomo, and Mitsuo Adachi Cancer Res October 1, 2000 60:5553-5557 |