Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.3471G>A | p.Glu1157Glu |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GAG | Glu | GAA | Glu | G->A | Ts |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Beta-catenin binding domain 3 | Yes, non 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) |
---|---|---|
0.56 | 1.00 (non pathogenous) | 18 (Polymorphism) |
Sample ID | Patient status |
33_SAT539---10-273, | Relative |
Symptom |
Reference ID | Reference |
33 | Unpublished data |