Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
c.805A>G | p.Met269Val |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
ATG | Met | GTG | Val | A->G | Ts |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
HhH & pseudo-HhH | 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) |
---|---|---|
1 | 0.00 (pathogenous) | 47 (Polymorphism) |
Sample ID | Patient status |
37_P00.01619--- | Relative |
Symptom |
Reference ID | Reference |
37 | Unpublished data |