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Mutation:
CLCN2 L724P
Summary
Isoform:
Position:
724
Ref:
L
Mutation:
P
PTM impact:
proximal
PTM affected:
3
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
KIRC
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: 719S
Affected site:
Position: 719
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 725W | SPTGSAESAGIAL[R/W]RS | 6 |
distal
|
| 718D | SPTGSA[E/D]ESAGIALRS | 1 |
proximal
|
| 715E | SPT[G/E]GSAESAGIALRS | 4 |
distal
|
| 719L | SPTGSAE[S/L]SAGIALRS | 0 |
direct
|
| 714I | SP[T/I]TGSAESAGIALRS | 5 |
distal
|
| 713L | S[P/L]PTGSAESAGIALRS | 6 |
distal
|
| 718K | SPTGSA[E/K]ESAGIALRS | 1 |
proximal
|
| 724P | SPTGSAESAGIA[L/P]LRS | 5 |
distal
|
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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