Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1121G>A | p.Arg374Gln |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
CGG | Arg | CAG | Gln | G->A | Ts |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Yes, non coding strand | Yes |
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 | 0.06 (non pathogenous) | 47 (Polymorphism) |
Sample ID | Patient status |
19_4821---4821.003 | Relative |
Symptom |
Reference ID | Reference |
19 | Unpublished data |