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

MSH6 E52K

Summary

Isoform:
NM_001281492
Position:
52
Ref:
E
Mutation:
K
PTM impact:
proximal
PTM affected:
1
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Hereditary nonpolyposis colorectal neoplasms

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 51S

Affected site:

Position: 51
Residue: S
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
45S P[G/S]GGDAAWSEAGPGPR 6
distal
45R P[G/R]GGDAAWSEAGPGPR 6
distal
45A P[G/A]GGDAAWSEAGPGPR 6
distal
45V P[G/V]GGDAAWSEAGPGPR 6
distal
46R PG[G/R]GDAAWSEAGPGPR 5
distal
46E PG[G/E]GDAAWSEAGPGPR 5
distal
48T PGGD[A/T]AAWSEAGPGPR 3
distal
48P PGGD[A/P]AAWSEAGPGPR 3
distal
48G PGGD[A/G]AAWSEAGPGPR 3
distal
48V PGGD[A/V]AAWSEAGPGPR 3
distal
49V PGGDA[A/V]AWSEAGPGPR 2
proximal
50R PGGDAA[W/R]WSEAGPGPR 1
proximal
50C PGGDAA[W/C]WSEAGPGPR 1
proximal
51G PGGDAAW[S/G]SEAGPGPR 0
direct
51I PGGDAAW[S/I]SEAGPGPR 0
direct
51R PGGDAAW[S/R]SEAGPGPR 0
direct
52K PGGDAAWS[E/K]EAGPGPR 1
proximal
52Q PGGDAAWS[E/Q]EAGPGPR 1
network-rewiring
52V PGGDAAWS[E/V]EAGPGPR 1
proximal
53D PGGDAAWSE[A/D]AGPGPR 2
proximal
54A PGGDAAWSEA[G/A]GPGPR 3
distal
55H PGGDAAWSEAG[P/H]PGPR 4
distal
55L PGGDAAWSEAG[P/L]PGPR 4
distal
56R PGGDAAWSEAGP[G/R]GPR 5
distal
56W PGGDAAWSEAGP[G/W]GPR 5
distal
56E PGGDAAWSEAGP[G/E]GPR 5
distal
57A PGGDAAWSEAGPG[P/A]PR 6
distal
57S PGGDAAWSEAGPG[P/S]PR 6
distal
57R PGGDAAWSEAGPG[P/R]PR 6
distal
57L PGGDAAWSEAGPG[P/L]PR 6
distal

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