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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 G75R

Summary

Isoform:
NM_001281492
Position:
75
Ref:
G
Mutation:
R
PTM impact:
distal
PTM affected:
1
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: 70K

Affected site:

Position: 70
Residue: K
Type: acetylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
64T S[A/T]ASPPKAKNLNGGLR 6
distal
64P S[A/P]ASPPKAKNLNGGLR 6
distal
64E S[A/E]ASPPKAKNLNGGLR 6
distal
65A SA[S/A]SPPKAKNLNGGLR 5
distal
65L SA[S/L]SPPKAKNLNGGLR 5
distal
66A SAS[P/A]PPKAKNLNGGLR 4
distal
66Q SAS[P/Q]PPKAKNLNGGLR 4
distal
66R SAS[P/R]PPKAKNLNGGLR 4
distal
66L SAS[P/L]PPKAKNLNGGLR 4
distal
67T SASP[P/T]PKAKNLNGGLR 3
distal
67S SASP[P/S]PKAKNLNGGLR 3
distal
67L SASP[P/L]PKAKNLNGGLR 3
distal
68R SASPP[K/R]KAKNLNGGLR 2
proximal
69T SASPPK[A/T]AKNLNGGLR 1
proximal
69V SASPPK[A/V]AKNLNGGLR 1
proximal
70E SASPPKA[K/E]KNLNGGLR 0
direct
71H SASPPKAK[N/H]NLNGGLR 1
proximal
71D SASPPKAK[N/D]NLNGGLR 1
proximal
71T SASPPKAK[N/T]NLNGGLR 1
proximal
72V SASPPKAKN[L/V]LNGGLR 2
proximal
72F SASPPKAKN[L/F]LNGGLR 2
proximal
75R SASPPKAKNLNG[G/R]GLR 5
distal
75E SASPPKAKNLNG[G/E]GLR 5
distal
75A SASPPKAKNLNG[G/A]GLR 5
distal
76M SASPPKAKNLNGG[L/M]LR 6
distal
76V SASPPKAKNLNGG[L/V]LR 6
distal
76Q SASPPKAKNLNGG[L/Q]LR 6
distal
76P SASPPKAKNLNGG[L/P]LR 6
distal

External references

dbSNP:
rs781002816

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