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Summary

Isoform:
Position:
278
Ref:
I
Mutation:
V
PTM impact:
proximal
PTM affected:
3
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

no data

Minor Allele Frequency: (ESP6500)

[0.3767]

Minor Allele Frequency: (1000 Genomes)

[0.239617]

PTM Site: 271K

Affected site:

Position: 271
Residue: K
Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
268V KTIL[A/V]ALMKTPVLFDI 3
distal
276V KTILALMKTPVL[F/V]FDI 5
distal

PTM Site: 279Y

Affected site:

Position: 279
Residue: Y
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
281T TPVLFDIYE[I/T]IKEAIK 2
proximal
278V TPVLFD[I/V]IYEIKEAIK 1
proximal
276V TPVL[F/V]FDIYEIKEAIK 3
distal

PTM Site: 282K

Affected site:

Position: 282
Residue: K
Type: sumoylation, acetylation, ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
288I LFDIYEIKEAIKG[V/I]VG 6
distal
281T LFDIYE[I/T]IKEAIKGVG 1
proximal
278V LFD[I/V]IYEIKEAIKGVG 4
distal
276V L[F/V]FDIYEIKEAIKGVG 6
distal

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