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Summary

Isoform:
Position:
153
Ref:
R
Mutation:
C
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)

[0.0078]

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 149K

Affected site:

Position: 149
Residue: K
Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
153P MSPFRGPKDRA[R/P]RKLA 4
distal
153C MSPFRGPKDRA[R/C]RKLA 4
distal
151Q MSPFRGPKD[R/Q]RARKLA 2
proximal
146Q MSPF[R/Q]RGPKDRARKLA 3
distal
152S MSPFRGPKDR[A/S]ARKLA 3
distal
151W MSPFRGPKD[R/W]RARKLA 2
proximal
154Q MSPFRGPKDRAR[K/Q]KLA 5
distal

PTM Site: 154K

Affected site:

Position: 154
Residue: K
Type: ubiquitination

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
153P GPKDRA[R/P]RKLAEVGSH 1
proximal
153C GPKDRA[R/C]RKLAEVGSH 1
proximal
151Q GPKD[R/Q]RARKLAEVGSH 3
distal
157K GPKDRARKLA[E/K]EVGSH 3
distal
152S GPKDR[A/S]ARKLAEVGSH 2
proximal
151W GPKD[R/W]RARKLAEVGSH 3
distal
156V GPKDRARKL[A/V]AEVGSH 2
proximal
154Q GPKDRAR[K/Q]KLAEVGSH 0
direct

PTM Site: 160S

Affected site:

Position: 160
Residue: S
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
157K RKLA[E/K]EVGSHEKVGQH 3
network-rewiring
156V RKL[A/V]AEVGSHEKVGQH 4
distal
154Q R[K/Q]KLAEVGSHEKVGQH 6
distal

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