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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 P44L

Summary

Isoform:
NM_001281492
Position:
44
Ref:
P
Mutation:
L
PTM impact:
network-rewiring
PTM affected:
3
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 41S

Affected site:

Position: 41
Residue: S
Type: phosphorylation (SARS-CoV-2), phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
35T A[A/T]AAAPGASPSPGGDA 6
distal
35S A[A/S]AAAPGASPSPGGDA 6
distal
35V A[A/V]AAAPGASPSPGGDA 6
distal
36S AA[A/S]AAPGASPSPGGDA 5
distal
36V AA[A/V]AAPGASPSPGGDA 5
distal
37T AAA[A/T]APGASPSPGGDA 4
distal
37P AAA[A/P]APGASPSPGGDA 4
distal
37V AAA[A/V]APGASPSPGGDA 4
distal
38S AAAA[P/S]PGASPSPGGDA 3
distal
38L AAAA[P/L]PGASPSPGGDA 3
distal
39R AAAAP[G/R]GASPSPGGDA 2
network-rewiring
39E AAAAP[G/E]GASPSPGGDA 2
network-rewiring
39A AAAAP[G/A]GASPSPGGDA 2
proximal
39V AAAAP[G/V]GASPSPGGDA 2
proximal
40T AAAAPG[A/T]ASPSPGGDA 1
proximal
40P AAAAPG[A/P]ASPSPGGDA 1
proximal
40S AAAAPG[A/S]ASPSPGGDA 1
proximal
41Y AAAAPGA[S/Y]SPSPGGDA 0
direct
41C AAAAPGA[S/C]SPSPGGDA 0
direct
41F AAAAPGA[S/F]SPSPGGDA 0
direct
42A AAAAPGAS[P/A]PSPGGDA 1
network-rewiring
42S AAAAPGAS[P/S]PSPGGDA 1
network-rewiring
42L AAAAPGAS[P/L]PSPGGDA 1
network-rewiring
43P AAAAPGASP[S/P]SPGGDA 2
proximal
43F AAAAPGASP[S/F]SPGGDA 2
proximal
44T AAAAPGASPS[P/T]PGGDA 3
distal
44L AAAAPGASPS[P/L]PGGDA 3
distal
45S AAAAPGASPSP[G/S]GGDA 4
distal
45R AAAAPGASPSP[G/R]GGDA 4
distal
45A AAAAPGASPSP[G/A]GGDA 4
distal
45V AAAAPGASPSP[G/V]GGDA 4
distal
46R AAAAPGASPSPG[G/R]GDA 5
distal
46E AAAAPGASPSPG[G/E]GDA 5
distal
37G AAA[A/G]APGASPSPGGDA 4
distal

PTM Site: 43S

Affected site:

Position: 43
Residue: S
Type: phosphorylation

Best loss of PTM site:

MAPK1 (probability p=0.951)
Site: 43S (phosphorylation)
Position in motif: 1
There are 10 other predicted losses:
  • MAPK3 (p=0.946)
  • CDK5 (p=0.946)
  • MAPK8 (p=0.921)
  • CDK1 (p=0.918)
  • MAPK14 (p=0.917)
  • GSK3B (p=0.88)
  • CDK2 (p=0.871)
  • MAPK10 (p=0.87)
  • CDK7 (p=0.87)
  • MAPK7 (p=0.863)

Other known mutations affecting this site

Mutation In sequence Distance Impact
37T A[A/T]APGASPSPGGDAAW 6
distal
37P A[A/P]APGASPSPGGDAAW 6
distal
37V A[A/V]APGASPSPGGDAAW 6
distal
38S AA[P/S]PGASPSPGGDAAW 5
distal
38L AA[P/L]PGASPSPGGDAAW 5
distal
39R AAP[G/R]GASPSPGGDAAW 4
distal
39E AAP[G/E]GASPSPGGDAAW 4
distal
39A AAP[G/A]GASPSPGGDAAW 4
distal
39V AAP[G/V]GASPSPGGDAAW 4
distal
40T AAPG[A/T]ASPSPGGDAAW 3
distal
40P AAPG[A/P]ASPSPGGDAAW 3
distal
40S AAPG[A/S]ASPSPGGDAAW 3
distal
41Y AAPGA[S/Y]SPSPGGDAAW 2
proximal
41C AAPGA[S/C]SPSPGGDAAW 2
proximal
41F AAPGA[S/F]SPSPGGDAAW 2
proximal
42A AAPGAS[P/A]PSPGGDAAW 1
proximal
42S AAPGAS[P/S]PSPGGDAAW 1
proximal
42L AAPGAS[P/L]PSPGGDAAW 1
proximal
43P AAPGASP[S/P]SPGGDAAW 0
direct
43F AAPGASP[S/F]SPGGDAAW 0
direct
44T AAPGASPS[P/T]PGGDAAW 1
network-rewiring
44L AAPGASPS[P/L]PGGDAAW 1
network-rewiring
45S AAPGASPSP[G/S]GGDAAW 2
proximal
45R AAPGASPSP[G/R]GGDAAW 2
network-rewiring
45A AAPGASPSP[G/A]GGDAAW 2
proximal
45V AAPGASPSP[G/V]GGDAAW 2
proximal
46R AAPGASPSPG[G/R]GDAAW 3
distal
46E AAPGASPSPG[G/E]GDAAW 3
network-rewiring
48T AAPGASPSPGGD[A/T]AAW 5
distal
48P AAPGASPSPGGD[A/P]AAW 5
distal
48G AAPGASPSPGGD[A/G]AAW 5
distal
48V AAPGASPSPGGD[A/V]AAW 5
distal
49V AAPGASPSPGGDA[A/V]AW 6
distal
37G A[A/G]APGASPSPGGDAAW 6
distal

PTM Site: 51S

Affected site:

Position: 51
Residue: S
Type: phosphorylation

Impact:

distal

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

External references

dbSNP:
rs863224615

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