|
A-to-I |
CDS |
607 |
3198 |
CAG->CGG |
Q->R |
Nonsynonymous substitution |
Decreased |
Brain |
Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. |
Promote neurodegenerative processes |
|
|
RNA editing levels at the GluA2 Q/R site in AD patients are lower than normals. This finding provides an important clue to the molecular mechanism underlying neurodegenerative processes in AD, and indicates that the Q/R site of the GluA2 could be a target of novel therapeutic strategies in neurodegenerative disorders.
|
A-to-I |
CDS |
607 |
3198 |
CAG->CGG |
Q->R |
Nonsynonymous substitution |
Increased |
lens brain |
Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. |
Promote cataract occurrence |
|
|
RNA editing at codon 607 in GluA2 transcripts occurs in the lens, GluA2 dysregulation may contribute similarly to a loss of Ca2+ homeostasis in the lens. GluA2 expression and RNA editing in the lens is a potential off-target drug interaction site.
|
A-to-I |
CDS |
607 |
3198 |
CAG->CGG |
Q->R |
Nonsynonymous substitution |
Decreased |
Neuron |
Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. |
Affect disease processing |
|
|
GluR2 mRNA was completely edited in all the motor neurons in patients with spinal and bulbar muscular atrophy (SBMA)
|
A-to-I |
CDS |
607 |
3198 |
CAG->CGG |
Q->R |
Nonsynonymous substitution |
Decreased |
Neuron |
Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. |
Reduce RNA editing in disease |
|
|
Q/R site-unedited GluA2 mRNA was expressed in a significant proportion of motor neurons from all of the ALS cases examined.
|
A-to-I |
CDS |
607 |
3198 |
CAG->CGG |
Q->R |
Nonsynonymous substitution |
Decreased |
Neuron |
Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. |
Reduce RNA editing in disease |
|
|
Cleaved ADAR2 leads to a decrease or loss of GluR2 editing, which will further result in high Ca2+ influx and excitotoxic neuronal death. An edited GluR2 subunit whose glutamine (Q) residue is substituted by arginine (R) at the Q/R site due to RNA editing. The pivotal role of the RNA editing at the GluR2 Q/R site in neuronal death has been clearly demonstrated in animal experiments and its deficiency is a direct cause of neuronal death.
|
A-to-I |
CDS |
607 |
3198 |
CAG->CGG |
Q->R |
Nonsynonymous substitution |
Decreased |
Hippocampus |
Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. |
Reduce RNA editing in disease |
|
|
Recovery of GluR2 Q/R site editing by expression of exogenous ADAR2b gene or a constitutively active CREB, VP16-CREB, which induces expression of endogenous ADAR2, protects vulnerable neurons in the rat hippocampus from forebrain ischemic insult.
|
A-to-I |
CDS |
764 |
NA |
NA |
R->G |
Alternative splicing |
Decreased |
Retinal ganglion cells |
Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. |
Promote apoptpsis |
|
|
Following oxidative injury, RGCs become more susceptible to AMPAR-mediated excitotoxicity. RNA editing and changes in alternative spliced flip and flop isoforms of AMPAR subunits may contribute to increased RGC death.
|
A-to-I |
CDS |
764 |
NA |
NA |
R->G |
Nonsynonymous substitution |
Decreased |
Neuron |
Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. |
Reduce RNA editing in disease |
|
|
The molecular changes set in motion by SCI that affect the channel properties of AMPA receptors. SCI strongly reduced the level of AMPA receptor R/G editing, the reduced editing at the R/G site of glutamate receptor subunits (GluRs) is likely to reduce post-synaptic excitatory responses to glutamate, thus limiting the progression of cell death; however, prolonged suppression of GluR function in later stages may hinder synaptic plasticity.
|
A-to-I |
CDS |
607 |
3198 |
CAG->CGG |
Q->R |
Nonsynonymous substitution |
Similar |
Cerebral cortex |
Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. |
Unrelated |
|
|
RNA editing is seen in human brain as well as rat brain and that the extent of editing is similar in Huntington's disease compared with controls .
|
A-to-I |
CDS |
607 |
3198 |
CAG->CGG |
Q->R |
Nonsynonymous substitution |
Increased |
Brain |
Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. |
Reduce RNA editing in disease |
|
|
Sequence analysis of human genomic DNA revealed a Q codon (CAG) in the putative channel-forming segment of human GluR-2, whereas in the majority of cDNA clones an R codon (CGG) was found. Examination of editing in various brain tissues revealed differences in the efficiency of this process. AMPA receptors are thought to mediate the majority of the fast excitatory synaptic neurotransmission; the RNA editing process may therefore play a critical role in normal brain function and development. Dysfunction of this RNA editing process may have neuropathological consequences and could be related to certain neurodegenerative diseases.
|
A-to-I |
CDS |
607 |
3198 |
CAG->CGG |
Q->R |
Nonsynonymous substitution |
Decreased |
HeLa cells |
Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. |
Reduce RNA editing in disease |
|
|
Antidepressants have the potency to enhance GluR2 Q/R site-editing by either upregulating the ADAR2 mRNA expression level or other unidentified mechanisms.
|
A-to-I |
intronic |
NA |
chr4:158258137 |
NA |
NA |
mRNA expression change |
Presence |
brain |
mRNA expression change |
RNA editing could contribute towards aberrant synaptic formation in ASD |
|
|
RNA editing could contribute towards aberrant synaptic formation in ASD
|
A-to-I |
intronic |
NA |
chr4:158167691 |
NA |
NA |
mRNA expression change |
Presence |
brain |
mRNA expression change |
RNA editing could contribute towards aberrant synaptic formation in ASD |
|
|
RNA editing could contribute towards aberrant synaptic formation in ASD
|
A-to-I |
intronic |
NA |
chr4:158258138 |
NA |
NA |
mRNA expression change |
Presence |
brain |
mRNA expression change |
RNA editing could contribute towards aberrant synaptic formation in ASD |
|
|
RNA editing could contribute towards aberrant synaptic formation in ASD