Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.457A>C | p.Lys153Gln |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
AAG | Lys | CAG | Gln | A->C | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
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) |
---|---|---|
0.69 | 0.04 (pathogenous) | 51 (Probable polymorphism) |
Sample ID | Patient status |
33_PSL2181---08--1948 | Relative |
Symptom |
Reference ID | Reference |
33 | Unpublished data |