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Mutation:
WIPF1 L418V
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Wiskott-Aldrich syndrome 2
Minor Allele Frequency: (ESP6500)
[0.0077]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 415R
Affected site:
Position: 415
Residue: R
Type: methylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 418V | DSPRSGPRPP[L/V]LPPDR | 3 |
distal
|
| 410H | DS[P/H]PRSGPRPPLPPDR | 5 |
distal
|
| 411S | DSP[R/S]RSGPRPPLPPDR | 4 |
distal
|
| 420H | DSPRSGPRPPLP[P/H]PDR | 5 |
distal
|
| 409G | D[S/G]SPRSGPRPPLPPDR | 6 |
distal
|
PTM Site: 422R
Affected site:
Position: 422
Residue: R
Type: methylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 418V | RPP[L/V]LPPDRPSAGAPP | 4 |
distal
|
| 426R | RPPLPPDRPSA[G/R]GAPP | 4 |
distal
|
| 420H | RPPLP[P/H]PDRPSAGAPP | 2 |
proximal
|
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