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

Summary

Isoform:
Position:
552
Ref:
D
Mutation:
V
PTM impact:
proximal
PTM affected:
5
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: 550S

Affected site:

Position: 550
Residue: S
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
552V SAVQFPESA[D/V]DTTAKQ 2
proximal
546E SAV[Q/E]QFPESADTTAKQ 4
distal
549Q SAVQFP[E/Q]ESADTTAKQ 1
proximal

PTM Site: 553T

Affected site:

Position: 553
Residue: T
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
552V QFPESA[D/V]DTTAKQSLG 1
proximal
559R QFPESADTTAKQS[L/R]LG 6
distal
549Q QFP[E/Q]ESADTTAKQSLG 4
distal

PTM Site: 554T

Affected site:

Position: 554
Residue: T
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
552V FPESA[D/V]DTTAKQSLGS 2
proximal
559R FPESADTTAKQS[L/R]LGS 5
distal
549Q FP[E/Q]ESADTTAKQSLGS 5
distal

PTM Site: 556K

Affected site:

Position: 556
Residue: K
Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
552V ESA[D/V]DTTAKQSLGSHR 4
distal
559R ESADTTAKQS[L/R]LGSHR 3
distal

PTM Site: 558S

Affected site:

Position: 558
Residue: S
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
552V A[D/V]DTTAKQSLGSHRAL 6
distal
559R ADTTAKQS[L/R]LGSHRAL 1
proximal

If you have any questions or feedback about this mutation:

Contact us