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Summary

Isoform:
Position:
118
Ref:
H
Mutation:
R
PTM impact:
distal
PTM affected:
2
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

no data

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

[0.0199681]

PTM Site: 121K

Affected site:

Position: 121
Residue: K
Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
125Q ERNIHGLKVNT[R/Q]RAGP 4
distal
115W E[R/W]RNIHGLKVNTRAGP 6
distal
118R ERNI[H/R]HGLKVNTRAGP 3
distal
126S ERNIHGLKVNTR[A/S]AGP 5
distal
127V ERNIHGLKVNTRA[G/V]GP 6
distal

PTM Site: 125R

Affected site:

Position: 125
Residue: R
Type: methylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
125Q HGLKVNT[R/Q]RAGPSQHS 0
direct
128S HGLKVNTRAG[P/S]PSQHS 3
distal
131Y HGLKVNTRAGPSQ[H/Y]HS 6
distal
126S HGLKVNTR[A/S]AGPSQHS 1
proximal
127V HGLKVNTRA[G/V]GPSQHS 2
proximal

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