You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:
GRIN2A K896E
Summary
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: 900S
Affected site:
Position: 900
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 904F | NMLKLLRSAKN[I/F]ISSM | 4 |
distal
|
| 899W | NMLKLL[R/W]RSAKNISSM | 1 |
proximal
|
| 896E | NML[K/E]KLLRSAKNISSM | 4 |
distal
|
| 905F | NMLKLLRSAKNI[S/F]SSM | 5 |
distal
|
If you have any questions or feedback about this mutation:
Contact us