Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.6108T>A | p.Asp2036Glu |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GAT | Asp | GAA | Glu | T->A | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Axin binding domain 3 | 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) |
---|---|---|
0.69 | 0.36 (non pathogenous) | 29 (Polymorphism) |
Sample ID | Patient status |
20_1876-01---6293 | Relative |
Symptom |
Reference ID | Reference |
20 | Unpublished data |