| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.722G>A | p.Cys241Tyr | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TAT | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,Sm,NM,NMH,FA,HD | No | No |
| 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 | - | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-NO21-M25R- | Proband | Female | 50 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 24 | 10576763 | N Hai, N Aoki, A Matsuda, T Mori, and S Kosugi Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1) Eur J Endocrinol 141 475-480, doi: 10.1530/eje.0.1410475 |