| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.466G>C | p.Gly156Arg | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGT | Gly | CGT | Arg | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,Sm,NMH,HD,NM | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): Hpa II, Msp I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0 | - | 82 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 01-BO21-A14N- | Proband | Female | 39 |
| Phenotypic group | Disease |
| Moderate | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 38 | 17766710 | O Vierimaa, T M L Ebeling, S Kyt*l*, R Bloigu, E Eloranta, J Salmi, E Korpi-Hy*v*lti, L Niskanen, A Orvola, E Elovaara, A Gynther, T Sane, M V*lim*ki, J Ignatius, J Leisti, and P I Salmela Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype?phenotype correlation Eur J Endocrinol 157 285-294, doi: 10.1530/EJE-07-0195 |