You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020

Summary

Isoform:
Position:
355
Ref:
P
Mutation:
R
PTM impact:
network-rewiring
PTM affected:
3
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Bloom syndrome, Hereditary cancer-predisposing syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 349S

Affected site:

Position: 349
Residue: S
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
343A L[S/A]SKPEKMSMQELNPE 6
distal
344N LS[K/N]KPEKMSMQELNPE 5
distal
347E LSKPE[K/E]KMSMQELNPE 2
network-rewiring
348I LSKPEK[M/I]MSMQELNPE 1
proximal
349G LSKPEKM[S/G]SMQELNPE 0
direct
349N LSKPEKM[S/N]SMQELNPE 0
direct
352K LSKPEKMSMQ[E/K]ELNPE 3
distal
353V LSKPEKMSMQE[L/V]LNPE 4
distal
355R LSKPEKMSMQELN[P/R]PE 6
distal
355L LSKPEKMSMQELN[P/L]PE 6
distal
348V LSKPEK[M/V]MSMQELNPE 1
proximal

PTM Site: 358S

Affected site:

Position: 358
Residue: S
Type: phosphorylation

Best gain of PTM site:

AKT1 (probability p=0.984)
Site: 358S (phosphorylation)
Position in motif: -3
There are 3 other predicted gains:
  • MAPKAPK2 (p=0.873)
  • PRKAA1 (p=0.868)
  • AKT2 (p=0.856)

Other known mutations affecting this site

Mutation In sequence Distance Impact
352K Q[E/K]ELNPETSTDCDARQ 6
distal
353V QE[L/V]LNPETSTDCDARQ 5
distal
355R QELN[P/R]PETSTDCDARQ 3
network-rewiring
355L QELN[P/L]PETSTDCDARQ 3
distal
363T QELNPETSTDCD[A/T]ARQ 5
distal
363V QELNPETSTDCD[A/V]ARQ 5
distal
364K QELNPETSTDCDA[R/K]RQ 6
distal

PTM Site: 359T

Affected site:

Position: 359
Residue: T
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
353V E[L/V]LNPETSTDCDARQI 6
distal
355R ELN[P/R]PETSTDCDARQI 4
distal
355L ELN[P/L]PETSTDCDARQI 4
distal
363T ELNPETSTDCD[A/T]ARQI 4
distal
363V ELNPETSTDCD[A/V]ARQI 4
distal
364K ELNPETSTDCDA[R/K]RQI 5
distal

External references

dbSNP:

If you have any questions or feedback about this mutation:

Contact us