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

Summary

Isoform:
Position:
327
Ref:
T
Mutation:
S
PTM impact:
direct
PTM affected:
4
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Bloom syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 323K

Affected site:

Position: 323
Residue: K
Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
318W SK[C/W]CLSTLKDLDTSDR 5
distal
319F SKC[L/F]LSTLKDLDTSDR 4
distal
320T SKCL[S/T]STLKDLDTSDR 3
distal
323R SKCLSTL[K/R]KDLDTSDR 0
direct
327S SKCLSTLKDLD[T/S]TSDR 4
distal
329H SKCLSTLKDLDTS[D/H]DR 6
distal
328C SKCLSTLKDLDT[S/C]SDR 5
distal

PTM Site: 327T

Affected site:

Position: 327
Residue: T
Type: phosphorylation

Impact:

direct

Other known mutations affecting this site

Mutation In sequence Distance Impact
323R STL[K/R]KDLDTSDRKEDV 4
distal
327S STLKDLD[T/S]TSDRKEDV 0
direct
329H STLKDLDTS[D/H]DRKEDV 2
proximal
331E STLKDLDTSDR[K/E]KEDV 4
distal
331T STLKDLDTSDR[K/T]KEDV 4
distal
332Q STLKDLDTSDRK[E/Q]EDV 5
distal
328C STLKDLDT[S/C]SDRKEDV 1
proximal

PTM Site: 328S

Affected site:

Position: 328
Residue: S
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
323R TL[K/R]KDLDTSDRKEDVL 5
distal
327S TLKDLD[T/S]TSDRKEDVL 1
proximal
329H TLKDLDTS[D/H]DRKEDVL 1
proximal
331E TLKDLDTSDR[K/E]KEDVL 3
network-rewiring
331T TLKDLDTSDR[K/T]KEDVL 3
distal
332Q TLKDLDTSDRK[E/Q]EDVL 4
distal
334D TLKDLDTSDRKED[V/D]VL 6
distal
328C TLKDLDT[S/C]SDRKEDVL 0
direct

PTM Site: 331K

Affected site:

Position: 331
Residue: K
Type: ubiquitination, sumoylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
327S DLD[T/S]TSDRKEDVLSTS 4
distal
329H DLDTS[D/H]DRKEDVLSTS 2
proximal
331E DLDTSDR[K/E]KEDVLSTS 0
direct
331T DLDTSDR[K/T]KEDVLSTS 0
direct
332Q DLDTSDRK[E/Q]EDVLSTS 1
proximal
334D DLDTSDRKED[V/D]VLSTS 3
distal
335V DLDTSDRKEDV[L/V]LSTS 4
distal
336G DLDTSDRKEDVL[S/G]STS 5
distal
328C DLDT[S/C]SDRKEDVLSTS 3
distal

External references

dbSNP:

If you have any questions or feedback about this mutation:

Contact us