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Mutation:
GRIN2A R899W
Summary
Isoform:
Position:
899
Ref:
R
Mutation:
W
PTM impact:
proximal
PTM affected:
3
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: 900S
Affected site:
Position: 900
Residue: S
Type: phosphorylation
Impact:
proximalOther 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
|
PTM Site: 905S
Affected site:
Position: 905
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 904F | LRSAKN[I/F]ISSMSNMNS | 1 |
proximal
|
| 899W | L[R/W]RSAKNISSMSNMNS | 6 |
distal
|
| 905F | LRSAKNI[S/F]SSMSNMNS | 0 |
direct
|
| 910I | LRSAKNISSMSN[M/I]MNS | 5 |
distal
|
PTM Site: 906S
Affected site:
Position: 906
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 912C | RSAKNISSMSNMN[S/C]SS | 6 |
distal
|
| 904F | RSAKN[I/F]ISSMSNMNSS | 2 |
proximal
|
| 905F | RSAKNI[S/F]SSMSNMNSS | 1 |
proximal
|
| 910I | RSAKNISSMSN[M/I]MNSS | 4 |
distal
|
External references
dbSNP:
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