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Mutation:
GRIN2A D937E
Summary
Isoform:
Position:
937
Ref:
D
Mutation:
E
PTM impact:
proximal
PTM affected:
2
Kinases:
FYN
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)
[0.0199681]
PTM Site: 938K
Affected site:
Position: 938
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 937E | IMDMVS[D/E]DKGNLMYSD | 1 |
proximal
|
| 937N | IMDMVS[D/N]DKGNLMYSD | 1 |
proximal
|
| 934K | IMD[M/K]MVSDKGNLMYSD | 4 |
distal
|
| 939R | IMDMVSDK[G/R]GNLMYSD | 1 |
proximal
|
| 933N | IM[D/N]DMVSDKGNLMYSD | 5 |
distal
|
| 932I | I[M/I]MDMVSDKGNLMYSD | 6 |
distal
|
PTM Site: 943Y
Affected site:
Position: 943
Residue: Y
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 937E | S[D/E]DKGNLMYSDNRSFQ | 6 |
distal
|
| 937N | S[D/N]DKGNLMYSDNRSFQ | 6 |
distal
|
| 939R | SDK[G/R]GNLMYSDNRSFQ | 4 |
distal
|
External references
dbSNP:
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