Summary

Isoform:
Position:
297
Ref:
H
Mutation:
R
PTM impact:
distal
PTM affected:
3
Kinases:
EP300, LRRK2

Clinical Information

Cancer types: (TCGA MC3)

no data

Disease Annotations: (ClinVar)

Tumor predisposition syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 292K

Affected site:

Position: 292
Residue: K
Type: acetylation,ubiquitination

Impact:

distal

PTM Site: 291K

PTM Site: 304T

Affected site:

Position: 304
Residue: T
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
298K H[E/K]ELPPGSTKRALPNN 6
distal
310K HELPPGSTKRALP[N/K]NN 6
distal
304A HELPPGS[T/A]TKRALPNN 0
direct
303N HELPPG[S/N]STKRALPNN 1
proximal
303G HELPPG[S/G]STKRALPNN 1
proximal
302R HELPP[G/R]GSTKRALPNN 2
network-rewiring
307V HELPPGSTKR[A/V]ALPNN 3
distal

External references

dbSNP:

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