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Mutation:
CLCN2 G715E
Summary
Isoform:
Position:
715
Ref:
G
Mutation:
E
PTM impact:
network-rewiring
PTM affected:
3
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Epilepsy, juvenile absence 2, Leukoencephalopathy with ataxia
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 712S
Affected site:
Position: 712
Residue: S
Type: phosphorylation
Only gain of PTM site:
CSNK2A1 (probability p=0.932)
Site: 712S (phosphorylation)
Position in motif: 3
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 718D | VTRNLGESPTGSA[E/D]ES | 6 |
distal
|
| 715E | VTRNLGESPT[G/E]GSAES | 3 |
network-rewiring
|
| 714I | VTRNLGESP[T/I]TGSAES | 2 |
proximal
|
| 710R | VTRNL[G/R]GESPTGSAES | 2 |
network-rewiring
|
| 713L | VTRNLGES[P/L]PTGSAES | 1 |
network-rewiring
|
| 718K | VTRNLGESPTGSA[E/K]ES | 6 |
distal
|
PTM Site: 716S
Affected site:
Position: 716
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 718D | LGESPTGSA[E/D]ESAGIA | 2 |
proximal
|
| 715E | LGESPT[G/E]GSAESAGIA | 1 |
proximal
|
| 719L | LGESPTGSAE[S/L]SAGIA | 3 |
distal
|
| 714I | LGESP[T/I]TGSAESAGIA | 2 |
proximal
|
| 710R | L[G/R]GESPTGSAESAGIA | 6 |
distal
|
| 713L | LGES[P/L]PTGSAESAGIA | 3 |
distal
|
| 718K | LGESPTGSA[E/K]ESAGIA | 2 |
network-rewiring
|
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
|
External references
dbSNP:
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