| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.584A>G | p.Glu195Gly | Heterozygous | LIKELY CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | GGG | Gly | A->G | Ts |
| 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): Dde I |
| 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-CA19-J01C- | Relative | Male | 49 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 44 | 17194968 | Ann Endocrinol (Paris). 2006 Dec;67(6):581-7. Contribution of genetic analysis in screening for MEN1 among patients with sporadic disease and one or more typical manifestation. Odou MF1, Cardot-Bauters C, Vantyghem MC, Carnaille B, Leteurtre E, Pigny P, Verier-Mine O, Desailloud R, Porchet N. Author information |