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Mutation:
GRIN2A M915T
Summary
Isoform:
Position:
915
Ref:
M
Mutation:
T
PTM impact:
proximal
PTM affected:
4
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: 908S
Affected site:
Position: 908
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 912C | AKNISSMSNMN[S/C]SSRM | 4 |
distal
|
| 904F | AKN[I/F]ISSMSNMNSSRM | 4 |
distal
|
| 905F | AKNI[S/F]SSMSNMNSSRM | 3 |
distal
|
| 910I | AKNISSMSN[M/I]MNSSRM | 2 |
proximal
|
PTM Site: 912S
Affected site:
Position: 912
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 918S | SSMSNMNSSRMDS[P/S]PK | 6 |
distal
|
| 917A | SSMSNMNSSRMD[S/A]SPK | 5 |
distal
|
| 915T | SSMSNMNSSR[M/T]MDSPK | 3 |
distal
|
| 912C | SSMSNMN[S/C]SSRMDSPK | 0 |
direct
|
| 910I | SSMSN[M/I]MNSSRMDSPK | 2 |
proximal
|
PTM Site: 913S
Affected site:
Position: 913
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 918S | SMSNMNSSRMDS[P/S]PKR | 5 |
distal
|
| 917A | SMSNMNSSRMD[S/A]SPKR | 4 |
distal
|
| 915T | SMSNMNSSR[M/T]MDSPKR | 2 |
proximal
|
| 912C | SMSNMN[S/C]SSRMDSPKR | 1 |
proximal
|
| 910I | SMSN[M/I]MNSSRMDSPKR | 3 |
distal
|
PTM Site: 917S
Affected site:
Position: 917
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 922V | MNSSRMDSPKRA[A/V]ADF | 5 |
distal
|
| 918S | MNSSRMDS[P/S]PKRAADF | 1 |
network-rewiring
|
| 917A | MNSSRMD[S/A]SPKRAADF | 0 |
direct
|
| 915T | MNSSR[M/T]MDSPKRAADF | 2 |
proximal
|
| 912C | MN[S/C]SSRMDSPKRAADF | 5 |
distal
|
| 920S | MNSSRMDSPK[R/S]RAADF | 3 |
distal
|
External references
dbSNP:
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