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Summary

Isoform:
Position:
21
Ref:
V
Mutation:
F
PTM impact:
proximal
PTM affected:
1
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Periventricular nodular heterotopia 1

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 23T

Affected site:

Position: 23
Residue: T
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
28I APGGGVDTRDAE[M/I]MPA 5
distal
28V APGGGVDTRDAE[M/V]MPA 5
distal
26V APGGGVDTRD[A/V]AEMPA 3
distal
26P APGGGVDTRD[A/P]AEMPA 3
distal
26T APGGGVDTRD[A/T]AEMPA 3
distal
24W APGGGVDT[R/W]RDAEMPA 1
proximal
22G APGGGV[D/G]DTRDAEMPA 1
proximal
21F APGGG[V/F]VDTRDAEMPA 2
proximal

External references

dbSNP:

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