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Mutation:
GABRB3 A27T
Summary
Clinical Information
Cancer types: (TCGA MC3)
COAD
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Epilepsy, childhood absence 1
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 34N
Affected site:
Position: 34
Residue: N
Type: N-glycosylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 28C | A[Y/C]YSGIPLNLTLDNRV | 6 |
distal
|
| 32T | AYSGI[P/T]PLNLTLDNRV | 2 |
proximal
|
| 36M | AYSGIPLNL[T/M]TLDNRV | 2 |
motif-changing
|
| 32H | AYSGI[P/H]PLNLTLDNRV | 2 |
proximal
|
| 40Q | AYSGIPLNLTLDN[R/Q]RV | 6 |
distal
|
| 34T | AYSGIPL[N/T]NLTLDNRV | 0 |
direct
|
External references
dbSNP:
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