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Mutation:
MEF2C E400K
Summary
Isoform:
Position:
400
Ref:
E
Mutation:
K
PTM impact:
network-rewiring
PTM affected:
3
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
BLCA
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: 397S
Affected site:
Position: 397
Residue: S
Type: phosphorylation
Only gain of PTM site:
PAK1 (probability p=0.93)
Site: 403S (phosphorylation)
Position in motif: -3
Best loss of PTM site:
CSNK2A1 (probability p=0.951)
Site: 397S (phosphorylation)
Position in motif: 3
There is 1 other predicted
loss:
- CSNK2A2 (p=0.92)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 398A | PIGLTRPS[P/A]PDERESP | 1 |
network-rewiring
|
| 400K | PIGLTRPSPD[E/K]ERESP | 3 |
network-rewiring
|
| 395K | PIGLT[R/K]RPSPDERESP | 2 |
network-rewiring
|
| 401T | PIGLTRPSPDE[R/T]RESP | 4 |
distal
|
| 401K | PIGLTRPSPDE[R/K]RESP | 4 |
distal
|
PTM Site: 403S
Affected site:
Position: 403
Residue: S
Type: phosphorylation
Only gain of PTM site:
PAK1 (probability p=0.93)
Site: 403S (phosphorylation)
Position in motif: -3
Best loss of PTM site:
CSNK2A1 (probability p=0.951)
Site: 397S (phosphorylation)
Position in motif: 3
There is 1 other predicted
loss:
- CSNK2A2 (p=0.92)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 406A | PSPDERESPS[V/A]VKRMR | 3 |
distal
|
| 398A | PS[P/A]PDERESPSVKRMR | 5 |
distal
|
| 400K | PSPD[E/K]ERESPSVKRMR | 3 |
network-rewiring
|
| 401T | PSPDE[R/T]RESPSVKRMR | 2 |
network-rewiring
|
| 401K | PSPDE[R/K]RESPSVKRMR | 2 |
network-rewiring
|
PTM Site: 405S
Affected site:
Position: 405
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 406A | PDERESPS[V/A]VKRMRLS | 1 |
proximal
|
| 400K | PD[E/K]ERESPSVKRMRLS | 5 |
distal
|
| 401T | PDE[R/T]RESPSVKRMRLS | 4 |
distal
|
| 401K | PDE[R/K]RESPSVKRMRLS | 4 |
distal
|
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