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Mutation:
STRADA E388Q
Summary
Isoform:
Position:
388
Ref:
E
Mutation:
Q
PTM impact:
distal
PTM affected:
1
Kinases:
STK11
Clinical Information
Cancer types: (TCGA MC3)
ESCA
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 382T
Affected site:
Position: 382
Residue: T
Type: phosphorylation
Impact:
distalOther 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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