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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 A34V

Summary

Isoform:
NM_001281492
Position:
34
Ref:
A
Mutation:
V
PTM impact:
proximal
PTM affected:
2
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Hereditary cancer-predisposing syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 33R

Affected site:

Position: 33
Residue: R
Type: methylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
28P RA[S/P]SREGGRAAAAPGA 5
distal
28L RA[S/L]SREGGRAAAAPGA 5
distal
29G RAS[R/G]REGGRAAAAPGA 4
distal
29C RAS[R/C]REGGRAAAAPGA 4
distal
30K RASR[E/K]EGGRAAAAPGA 3
distal
30Q RASR[E/Q]EGGRAAAAPGA 3
distal
31C RASRE[G/C]GGRAAAAPGA 2
proximal
32C RASREG[G/C]GRAAAAPGA 1
proximal
32D RASREG[G/D]GRAAAAPGA 1
proximal
32V RASREG[G/V]GRAAAAPGA 1
proximal
33S RASREGG[R/S]RAAAAPGA 0
direct
33C RASREGG[R/C]RAAAAPGA 0
direct
33P RASREGG[R/P]RAAAAPGA 0
direct
33L RASREGG[R/L]RAAAAPGA 0
direct
34T RASREGGR[A/T]AAAAPGA 1
proximal
34G RASREGGR[A/G]AAAAPGA 1
proximal
34V RASREGGR[A/V]AAAAPGA 1
proximal
35T RASREGGRA[A/T]AAAPGA 2
proximal
35S RASREGGRA[A/S]AAAPGA 2
proximal
35V RASREGGRA[A/V]AAAPGA 2
proximal
36S RASREGGRAA[A/S]AAPGA 3
distal
36V RASREGGRAA[A/V]AAPGA 3
distal
37T RASREGGRAAA[A/T]APGA 4
distal
37P RASREGGRAAA[A/P]APGA 4
distal
37V RASREGGRAAA[A/V]APGA 4
distal
38S RASREGGRAAAA[P/S]PGA 5
distal
38L RASREGGRAAAA[P/L]PGA 5
distal
39R RASREGGRAAAAP[G/R]GA 6
distal
39E RASREGGRAAAAP[G/E]GA 6
distal
39A RASREGGRAAAAP[G/A]GA 6
distal
39V RASREGGRAAAAP[G/V]GA 6
distal
37G RASREGGRAAA[A/G]APGA 4
distal

PTM Site: 41S

Affected site:

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

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

External references

dbSNP:
rs746624223

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