Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.3940C>G | p.Gln1314Glu |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
CAA | Gln | GAA | Glu | C->G | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
MSH2 interaction | 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) |
---|---|---|
0.99 | 0.45 (non pathogenous) | 23 (Polymorphism) |
Sample ID | Patient status |
4_JCS1409335125119 | Relative |
Symptom |
Reference ID | Reference |
4 | Unpublished data |