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Mutation:
STRADA E385K
Summary
Isoform:
Position:
385
Ref:
E
Mutation:
K
PTM impact:
network-rewiring
PTM affected:
1
Kinases:
STK11
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
[0.0199681]
PTM Site: 382T
Affected site:
Position: 382
Residue: T
Type: phosphorylation
Only loss of PTM site:
CSNK2A1 (probability p=0.948)
Site: 382T (phosphorylation)
Position in motif: 3
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 388Q | SGIFGLVTNLEEL[E/Q]EV | 6 |
distal
|
| 385K | SGIFGLVTNL[E/K]EELEV | 3 |
network-rewiring
|
| 376R | S[G/R]GIFGLVTNLEELEV | 6 |
distal
|
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