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Summary

Isoform:
Position:
258
Ref:
L
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)

[0.0077]

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 252K

Affected site:

Position: 252
Residue: K
Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
258V AYGKDLIKDLKSE[L/V]LS 6
distal
249G AYGK[D/G]DLIKDLKSELS 3
distal
256F AYGKDLIKDLK[S/F]SELS 4
distal
247S AY[G/S]GKDLIKDLKSELS 5
distal

PTM Site: 255K

Affected site:

Position: 255
Residue: K
Type: sumoylation, acetylation, ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
258V KDLIKDLKSE[L/V]LSGNF 3
distal
249G K[D/G]DLIKDLKSELSGNF 6
distal
256F KDLIKDLK[S/F]SELSGNF 1
proximal

PTM Site: 259S

Affected site:

Position: 259
Residue: S
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
258V KDLKSE[L/V]LSGNFEKTI 1
proximal
256F KDLK[S/F]SELSGNFEKTI 3
distal

PTM Site: 264K

Affected site:

Position: 264
Residue: K
Type: methylation, ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
258V E[L/V]LSGNFEKTILALMK 6
distal
268V ELSGNFEKTIL[A/V]ALMK 4
distal

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