| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.455T>G | p.Leu152Trp | Heterozygous | LIKELY CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTG | Leu | TGG | Trp | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju, Sm,NM,HD | Yes, 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-ME20-J15S- | Proband | Female | 46 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 22 | 9709976 | Parathyroid MEN1 Gene Mutations in Relation to Clinical Characteristics of Nonfamilial Primary Hyperparathyroidism Tobias Carling, Pamela Correa, Ola Hessman, Jakob Hedberg, Britt Skogseid, Daniel Lindberg, Jonas Rastad, Gunnar Westin, and G*ran *kerstr*m The Journal of Clinical Endocrinology & Metabolism 1998 83:8, 2960-2963 |