Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1847C>G | p.Pro616Arg |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
CCT | Pro | CGT | Arg | C->G | Tv |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
EXO1 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) |
---|---|---|
1 | 0.08 (non pathogenous) | 76 (Pathogenous) |
Sample ID | Patient status |
28346_28346-00128346-001 | Relative |
Symptom |
Reference ID | Reference |
19 | Unpublished data |