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Mutation:
CLCN2 F728L
Summary
Isoform:
Position:
728
Ref:
F
Mutation:
L
PTM impact:
proximal
PTM affected:
2
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
Breast-AdenoCa
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 726S
Affected site:
Position: 726
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 725W | SAGIAL[R/W]RSLFCGSPP | 1 |
proximal
|
| 724P | SAGIA[L/P]LRSLFCGSPP | 2 |
proximal
|
| 728L | SAGIALRSL[F/L]FCGSPP | 2 |
proximal
|
PTM Site: 731S
Affected site:
Position: 731
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 725W | L[R/W]RSLFCGSPPPEAAS | 6 |
distal
|
| 734R | LRSLFCGSPP[P/R]PEAAS | 3 |
distal
|
| 734A | LRSLFCGSPP[P/A]PEAAS | 3 |
distal
|
| 728L | LRSL[F/L]FCGSPPPEAAS | 3 |
distal
|
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