| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.722G>T | p.Cys241Phe | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TTT | Phe | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,Sm,NM,NMH,FA,HD | 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 | - | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 01-DH21-J15S- | Proband | Female | 20 |
| Phenotypic group | Disease |
| Moderate | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 27 | 15670192 | Ellard, S., Hattersley, A. T., Brewer, C. M. and Vaidya, B. (2005), Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing. Clinical Endocrinology, 62: 169?175. doi: 10.1111/j.1365-2265.2005.02190.x |