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Mutation:
GRIN2A A922V
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)
[0.0077]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 917S
Affected site:
Position: 917
Residue: S
Type: phosphorylation
Impact:
distalOther 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
|
PTM Site: 929S
Affected site:
Position: 929
Residue: S
Type: phosphorylation
Impact:
distalOther 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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