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Summary

Isoform:
Position:
75
Ref:
G
Mutation:
A
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

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Mutation
In sequence
Distance
Impact
70E SASPPKA[K/E]KNLNGGLR 0
direct
69T SASPPK[A/T]AKNLNGGLR 1
proximal
69V SASPPK[A/V]AKNLNGGLR 1
proximal
71H SASPPKAK[N/H]NLNGGLR 1
proximal
71D SASPPKAK[N/D]NLNGGLR 1
proximal
Showing 1 to 5 of 28 rows

External references

dbSNP:

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