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Mutation:
ACBD5 E188K
Summary
Isoform:
Position:
188
Ref:
E
Mutation:
K
PTM impact:
network-rewiring
PTM affected:
4
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
[0.279553]
PTM Site: 182S
Affected site:
Position: 182
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 176I | T[V/I]VNGKAESSDSGAES | 6 |
distal
|
| 188K | TVNGKAESSDSGA[E/K]ES | 6 |
distal
|
| 176F | T[V/F]VNGKAESSDSGAES | 6 |
distal
|
| 184Y | TVNGKAESS[D/Y]DSGAES | 2 |
network-rewiring
|
PTM Site: 183S
Affected site:
Position: 183
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 188K | VNGKAESSDSGA[E/K]ESE | 5 |
distal
|
| 184Y | VNGKAESS[D/Y]DSGAESE | 1 |
proximal
|
PTM Site: 185S
Affected site:
Position: 185
Residue: S
Type: phosphorylation
Best loss of PTM site:
CSNK2A1 (probability p=0.968)
Site: 185S (phosphorylation)
Position in motif: 3
There is 1 other predicted
loss:
- CSNK2A2 (p=0.896)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 188K | GKAESSDSGA[E/K]ESEEE | 3 |
network-rewiring
|
| 184Y | GKAESS[D/Y]DSGAESEEE | 1 |
proximal
|
PTM Site: 189S
Affected site:
Position: 189
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 188K | SSDSGA[E/K]ESEEEEAQE | 1 |
proximal
|
| 184Y | SS[D/Y]DSGAESEEEEAQE | 5 |
distal
|
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