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

Summary

Isoform:
Position:
333
Ref:
R
Mutation:
C
PTM impact:
direct
PTM affected:
4
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 327Y

Affected site:

Position: 327
Residue: Y
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Loading, please wait...
Mutation
In sequence
Distance
Impact
328S KKPLDGEY[F/S]FTLQIRG 1
proximal
329I KKPLDGEYF[T/I]TLQIRG 2
proximal
329A KKPLDGEYF[T/A]TLQIRG 2
proximal
325V KKPLD[G/V]GEYFTLQIRG 2
proximal
325E KKPLD[G/E]GEYFTLQIRG 2
proximal
Showing 1 to 5 of 19 rows

PTM Site: 333R

Affected site:

Position: 333
Residue: R
Type: methylation

Impact:

direct

Other known mutations affecting this site

Loading, please wait...
Mutation
In sequence
Distance
Impact
333H EYFTLQI[R/H]RGRERFEM 0
direct
333C EYFTLQI[R/C]RGRERFEM 0
direct
334E EYFTLQIR[G/E]GRERFEM 1
proximal
334W EYFTLQIR[G/W]GRERFEM 1
proximal
334R EYFTLQIR[G/R]GRERFEM 1
proximal
Showing 1 to 5 of 31 rows

PTM Site: 335R

Affected site:

Position: 335
Residue: R
Type: methylation

Impact:

proximal

Other known mutations affecting this site

Loading, please wait...
Mutation
In sequence
Distance
Impact
335P FTLQIRG[R/P]RERFEMFR 0
direct
335H FTLQIRG[R/H]RERFEMFR 0
direct
335C FTLQIRG[R/C]RERFEMFR 0
direct
334E FTLQIR[G/E]GRERFEMFR 1
proximal
334W FTLQIR[G/W]GRERFEMFR 1
proximal
Showing 1 to 5 of 33 rows

PTM Site: 337R

Affected site:

Position: 337
Residue: R
Type: methylation

Impact:

distal

Other known mutations affecting this site

Loading, please wait...
Mutation
In sequence
Distance
Impact
337L LQIRGRE[R/L]RFEMFREL 0
direct
337P LQIRGRE[R/P]RFEMFREL 0
direct
337H LQIRGRE[R/H]RFEMFREL 0
direct
337C LQIRGRE[R/C]RFEMFREL 0
direct
337G LQIRGRE[R/G]RFEMFREL 0
direct
Showing 1 to 5 of 33 rows

External references

dbSNP:

If you have any questions or feedback about this mutation:

Contact us