| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1231G>C | p.Ala411Pro | Heterozygous | LIKELY CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GCC | Ala | CCC | Pro | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,Pem,NM,RP,HD,CH | 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 | - | 53 (Probable polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-FO12-M01R- | Proband | Female | 43 |
| Phenotypic group | Disease |
| Moderate | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 29 | 12699448 | Pannett, A. A. J., Kennedy, A. M., Turner, J. J. O., Forbes, S. A., Cavaco, B. M., Bassett, J. H. D., Cianferotti, L., Harding, B., Shine, B., Flinter, F., Maidment, C. G. H., Trembath, R. and Thakker, R. V. (2003), Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Clinical Endocrinology, 58: 639?646. doi:10.1046/j.1365-2265.2003.01765.x |