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Mutation:
GRIN2A R927G
Summary
Isoform:
Position:
927
Ref:
R
Mutation:
G
PTM impact:
network-rewiring
PTM affected:
1
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Epilepsy, focal, with speech disorder and with or without mental retardation
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 929S
Affected site:
Position: 929
Residue: S
Type: phosphorylation
Best loss of PTM site:
PRKACA (probability p=0.951)
Site: 929S (phosphorylation)
Position in motif: -2
There are 2 other predicted
losses:
- ROCK1 (p=0.875)
- PRKG1 (p=0.852)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 927G | ADFIQ[R/G]RGSLIMDMVS | 2 |
network-rewiring
|
| 934K | ADFIQRGSLIMD[M/K]MVS | 5 |
distal
|
| 933N | ADFIQRGSLIM[D/N]DMVS | 4 |
distal
|
| 932I | ADFIQRGSLI[M/I]MDMVS | 3 |
distal
|
External references
dbSNP:
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