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Summary

Isoform:
Position:
54
Ref:
G
Mutation:
V
PTM impact:
proximal
PTM affected:
4
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: 51K

Affected site:

Position: 51
Residue: K
Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
54S QQLPHLLKDV[G/S]GSLDE 3
distal
54V QQLPHLLKDV[G/V]GSLDE 3
distal
48P QQLP[H/P]HLLKDVGSLDE 3
distal
48Y QQLP[H/Y]HLLKDVGSLDE 3
distal
56F QQLPHLLKDVGS[L/F]LDE 5
distal

PTM Site: 55S

Affected site:

Position: 55
Residue: S
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
54S HLLKDV[G/S]GSLDEKMKS 1
proximal
54V HLLKDV[G/V]GSLDEKMKS 1
proximal
56F HLLKDVGS[L/F]LDEKMKS 1
proximal

PTM Site: 59K

Affected site:

Position: 59
Residue: K
Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
64G DVGSLDEKMKSL[D/G]DVN 5
distal
54S DV[G/S]GSLDEKMKSLDVN 5
distal
54V DV[G/V]GSLDEKMKSLDVN 5
distal
56F DVGS[L/F]LDEKMKSLDVN 3
distal

PTM Site: 61K

Affected site:

Position: 61
Residue: K
Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
66K GSLDEKMKSLDV[N/K]NQD 5
distal
64G GSLDEKMKSL[D/G]DVNQD 3
distal
56F GS[L/F]LDEKMKSLDVNQD 5
distal

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