Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.4141C>A | p.Pro1381Thr |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
CCA | Pro | ACA | Thr | C->A | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Beta-catenin degradation domai | Yes, 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) |
---|---|---|
0.69 | 0.00 (pathogenous) | 82 (Pathogenous) |
Sample ID | Patient status |
37_P05.032940--- | Relative |
Symptom |
Reference ID | Reference |
37 | Unpublished data |