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Mutation:
BRF1 R340G
Summary
Isoform:
Position:
340
Ref:
R
Mutation:
G
PTM impact:
network-rewiring
PTM affected:
3
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
SKCM
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 333K
Affected site:
Position: 333
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 338M | EQKKISSKINYS[V/M]VLR | 5 |
distal
|
| 337T | EQKKISSKINY[S/T]SVLR | 4 |
distal
|
| 332N | EQKKIS[S/N]SKINYSVLR | 1 |
proximal
|
PTM Site: 343S
Affected site:
Position: 343
Residue: S
Type: phosphorylation
Best loss of PTM site:
AKT1 (probability p=0.967)
Site: 343S (phosphorylation)
Position in motif: -3
There are 9 other predicted
losses:
- PRKACA (p=0.966)
- PRKG1 (p=0.937)
- CAMK1 (p=0.906)
- PAK1 (p=0.898)
- CAMK2A (p=0.896)
- CHEK2 (p=0.896)
- PRKAA1 (p=0.866)
- CHEK1 (p=0.865)
- PRKD1 (p=0.852)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 338M | YS[V/M]VLRGLSSAGGGSP | 5 |
distal
|
| 337T | Y[S/T]SVLRGLSSAGGGSP | 6 |
distal
|
| 340Q | YSVL[R/Q]RGLSSAGGGSP | 3 |
network-rewiring
|
| 340G | YSVL[R/G]RGLSSAGGGSP | 3 |
network-rewiring
|
| 340W | YSVL[R/W]RGLSSAGGGSP | 3 |
network-rewiring
|
PTM Site: 344S
Affected site:
Position: 344
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 338M | S[V/M]VLRGLSSAGGGSPH | 6 |
distal
|
| 340Q | SVL[R/Q]RGLSSAGGGSPH | 4 |
distal
|
| 340G | SVL[R/G]RGLSSAGGGSPH | 4 |
distal
|
| 340W | SVL[R/W]RGLSSAGGGSPH | 4 |
distal
|
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