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Mutation:
MEF2C R395K
Summary
Isoform:
Position:
395
Ref:
R
Mutation:
K
PTM impact:
network-rewiring
PTM affected:
2
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
HNSC
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: 389S
Affected site:
Position: 389
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 388P | DHRNEF[H/P]HSPIGLTRP | 1 |
proximal
|
| 395K | DHRNEFHSPIGLT[R/K]RP | 6 |
distal
|
| 384G | DH[R/G]RNEFHSPIGLTRP | 5 |
distal
|
PTM Site: 397S
Affected site:
Position: 397
Residue: S
Type: phosphorylation
Best loss of PTM site:
PRKACA (probability p=0.937)
Site: 397S (phosphorylation)
Position in motif: -2
There is 1 other predicted
loss:
- ROCK1 (p=0.872)
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
|
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