| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.941G>C | p.Arg314Pro | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGG | Arg | CCG | Pro | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| NF,NM,RP,FA,HD | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): BspE I, Hpa II, Msp I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0 | - | 76 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-DI22-L09S- | Relative | Female | 46 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 7 | 9683585 | Giraud, S., Zhang, C. X., Serova-Sinilnikova, O., Wautot, V., Salandre, J., Buisson, N., ? Calender, A. (1998). Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders. American Journal of Human Genetics, 63(2), 455?67. doi:10.1086/301953 |