Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
c.952T>C | p.Cys318Arg |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TGT | Cys | CGT | Arg | T->C | Ts |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
APE1 binding site | 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) |
---|---|---|
0.74 | 0.26 (non pathogenous) | 82 (Pathogenous) |
Sample ID | Patient status |
7_-59934128--- | Relative |
Symptom |
Reference ID | Reference |
7 | Unpublished data |