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Mutation:
WNK1 K63Q
Summary
Isoform:
Position:
63
Ref:
K
Mutation:
Q
PTM impact:
distal
PTM affected:
2
Kinases:
PKB group,
RPS6KA5,
SGK1,
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
|
PTM Site: 66R
Affected site:
Position: 66
Residue: R
Type: methylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 63Q | HTMD[K/Q]KDSRGAAATTT | 3 |
distal
|
| 65N | HTMDKD[S/N]SRGAAATTT | 1 |
proximal
|
| 68T | HTMDKDSRG[A/T]AAATTT | 2 |
proximal
|
| 70G | HTMDKDSRGAA[A/G]ATTT | 4 |
distal
|
| 72A | HTMDKDSRGAAAT[T/A]TT | 6 |
distal
|
| 65I | HTMDKD[S/I]SRGAAATTT | 1 |
proximal
|
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