Table 1.
Selected editing events in the CNS.
| Target | Editing site | Function | Diseases |
|---|---|---|---|
| GluA2 | Q607 R | Calcium impermeable ER exit efficiency reduction | ALS, epilepsy, glioblastomamultiforme, pediatric astrocytoma |
| GluA2 | R764G | Enhanced rate of desensitization | Spinal cord injury (SCI), epilepsy |
| Modulation of alternative splicing | Schizophrenia on drug administration | ||
| Serotonin | I156V | Modulation of surface expression of the receptor | Schizophrenia |
| receptor | I156M | Reduced G protein coupling | Bipolar disorder |
| 5HT2C | N158S | Decreased Erk signaling | Depression |
| N158G | Anxiety | ||
| N158D | Prader–Willi syndrome | ||
| I160V | |||
| Kv1.1 | I400V | Faster recovery from inactivation | Epilepsy |
| Reduced potency of channel blockers | |||
| GABAA | I342M | Reduced stability of α3 subunit | Migraine |
| FLNa | Q2341R | Binds to: Kv4.2 K+ Channel | |
| Presenilins metabotropicmGlu5a/b, mGlu7b, mGlu8a, weak: mGlu7a mGlu4a | |||
| CyFIP2 | K320E | ||
| Nova-1 | S383G | Increase in protein stability | |
| Ca(v)1.3 | I1606M | Decrease in calmodulin mediated calcium dependent | |
| Q1607R | inhibition (CDI) and faster recovery from inactivation | ||
| Y1609C |
Proposed physiological and pathological consequences.