Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.3796G>T | p.Asp1266Tyr |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GAT | Asp | TAT | Tyr | G->T | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Beta-catenin degradation domai | 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) |
---|---|---|
0.75 | 0.03 (pathogenous) | 92 (Pathogenous) |
Sample ID | Patient status |
33_PSL2695---09-1302 | Relative |
Symptom |
Reference ID | Reference |
33 | Unpublished data |