Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.148T>C | p.Trp50Arg |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TGG | Trp | CGG | Arg | T->C | Ts |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
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) |
---|---|---|
0.62 | 0.54 (non pathogenous) | 53 (Probable polymorphism) |
Sample ID | Patient status |
4_Gr2011-72265614793 | Relative |
Symptom |
Reference ID | Reference |
4 | Unpublished data |