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Mutation:
WNK1 R56G
Summary
Isoform:
Position:
56
Ref:
R
Mutation:
G
PTM impact:
distal
PTM affected:
1
Kinases:
PKB group,
SGK1,
RPS6KA5,
AKT1
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary sensory and autonomic neuropathy type IIA
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 60T
Affected site:
Position: 60
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 56G | EYR[R/G]RRRHTMDKDSRG | 4 |
distal
|
| 63Q | EYRRRRHTMD[K/Q]KDSRG | 3 |
distal
|
| 65N | EYRRRRHTMDKD[S/N]SRG | 5 |
distal
|
| 58C | EYRRR[R/C]RHTMDKDSRG | 2 |
proximal
|
| 65I | EYRRRRHTMDKD[S/I]SRG | 5 |
distal
|
External references
dbSNP:
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