| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.914G>A | p.Gly305Asp | Heterozygous | LIKELY CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGC | Gly | GAC | Asp | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| NF,Pem,NM,RP,NMH,FA,HD | Yes, non coding strand | 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-MA18-M01R- | Relative | Male | 43 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 26 | 10664521 | A novel mutation of the MEN1 gene in a Japanese kindred with familial isolated primary hyperparathyroidism M Honda, T Tsukada, H Tanaka, K Maruyama, K Yamaguchi, T Obara, T Yamaji, and M Ishibashi Eur J Endocrinol 142 138-143, doi: 10.1530/eje.0.1420138 |