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Mutation:
GABRB3 V49L
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
Panc-AdenoCA
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 42K
Affected site:
Position: 42
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 42R | DTYFLND[K/R]KKSFVHGV | 0 |
direct
|
| 39F | DTYF[L/F]LNDKKSFVHGV | 3 |
distal
|
| 43M | DTYFLNDK[K/M]KSFVHGV | 1 |
proximal
|
| 36I | D[T/I]TYFLNDKKSFVHGV | 6 |
distal
|
PTM Site: 43K
Affected site:
Position: 43
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 42R | TYFLND[K/R]KKSFVHGVT | 1 |
proximal
|
| 39F | TYF[L/F]LNDKKSFVHGVT | 4 |
distal
|
| 43M | TYFLNDK[K/M]KSFVHGVT | 0 |
direct
|
| 49L | TYFLNDKKSFVHG[V/L]VT | 6 |
distal
|
PTM Site: 52K
Affected site:
Position: 52
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 58R | FVHGVTVKNRMIR[L/R]LH | 6 |
distal
|
| 55V | FVHGVTVKNR[M/V]MIRLH | 3 |
distal
|
| 54L | FVHGVTVKN[R/L]RMIRLH | 2 |
proximal
|
| 54H | FVHGVTVKN[R/H]RMIRLH | 2 |
proximal
|
| 54C | FVHGVTVKN[R/C]RMIRLH | 2 |
proximal
|
| 49L | FVHG[V/L]VTVKNRMIRLH | 3 |
distal
|
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