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Summary

Isoform:
Position:
48
Ref:
H
Mutation:
P
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: 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:

distal

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

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