Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1626G>C | p.Gln542His |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
CAG | Gln | CAC | His | G->C | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
ASEF binding domain ARM2 | Yes, non 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) |
---|---|---|
0.94 | 0.00 (pathogenous) | 65 (Probably pathogenous) |
Sample ID | Patient status |
19_20683---20683.001 | Relative |
Symptom |
Reference ID | Reference |
19 | Unpublished data |