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Mutation:
CLCN2 E739K
Summary
Isoform:
Position:
739
Ref:
E
Mutation:
K
PTM impact:
proximal
PTM affected:
2
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
SKCM
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 738S
Affected site:
Position: 738
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 734R | SPP[P/R]PEAASEKLESCE | 4 |
distal
|
| 734A | SPP[P/A]PEAASEKLESCE | 4 |
distal
|
| 739K | SPPPEAAS[E/K]EKLESCE | 1 |
proximal
|
PTM Site: 743S
Affected site:
Position: 743
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 747H | AASEKLESCEK[R/H]RKLK | 4 |
distal
|
| 739K | AAS[E/K]EKLESCEKRKLK | 4 |
distal
|
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