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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:

distal

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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