Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.5572C>A | p.Arg1858Arg |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
CGA | Arg | AGA | Arg | C->A | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Beta-catenin degradation domai | 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) |
---|---|---|
0.62 | 1.00 (non pathogenous) | 29 (Polymorphism) |
Sample ID | Patient status |
37_P08.34-E8338RNA | Relative |
Symptom |
Reference ID | Reference |
37 | Unpublished data |