| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.959C>T | p.Pro320Leu | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCC | Pro | CTC | Leu | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| NF,NM,RP,FA,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 | - | 65 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 02-CH05-Y21N- | Proband | Female | 39 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 35 | 10993647 | Bergman, L., Teh, B., Cardinal, J., Palmer, J., Walters, M., Shepherd, J., ? Hayward, N. (2000). Identification of MEN1 gene mutations in families with MEN 1 and related disorders. British Journal of Cancer, 83(8), 1009?1014. http://doi.org/10.1054/bjoc.2000.1380 |