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Mutation:
CLCN2 P734R
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0077]
Minor Allele Frequency: (1000 Genomes)
no data
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
|
PTM Site: 738S
Affected site:
Position: 738
Residue: S
Type: phosphorylation
Impact:
distalOther 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
|
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