| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1621A>G | p.Thr541Ala | Heterozygous | Polymorphism |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACA | Thr | GCA | Ala | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Sm3,CH | 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 | - | 65 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 0-000-000- | Proband |
| Phenotypic group | Disease |
| Not available | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 30 | 24997771 | p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation? Nozi*res C1, Zhang CX2, Buffet A3, Dupasquier S4, Vargas-Poussou R3, Guillaud-Bataille M5, Cordier-Bussat M6, Ruszniewski P7, Christin-Maitre S8, Murat A9, Groussin L10, Vezzosi D11, Cardot-Bauters C12, Hervieu V13, Joly MO13, Giraud S2, Odou MF14, Gimenez-Roqueplo AP3, Goudet P15, Borson-Chazot F16, Calender A17; Groupe fran*ais des tumeurs endocrines (GTE). Ann Endocrinol (Paris). 2014 Jul;75(3):133-40. doi: 10.1016/j.ando.2014.05.003. Epub 2014 Jul 2. |