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Mutation:
ACBD5 V176I
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0077]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 170T
Affected site:
Position: 170
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 176I | LGNVLTSTPNAKT[V/I]VN | 6 |
distal
|
| 172D | LGNVLTSTP[N/D]NAKTVN | 2 |
proximal
|
| 171L | LGNVLTST[P/L]PNAKTVN | 1 |
network-rewiring
|
| 173T | LGNVLTSTPN[A/T]AKTVN | 3 |
distal
|
| 168I | LGNVL[T/I]TSTPNAKTVN | 2 |
proximal
|
| 176F | LGNVLTSTPNAKT[V/F]VN | 6 |
distal
|
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
|
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