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Summary

Isoform:
Position:
181
Ref:
A
Mutation:
T
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: 185K

Affected site:

Position: 185
Residue: K
Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

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Mutation
In sequence
Distance
Impact
185Q RRMACLA[K/Q]KSSRQPTG 0
direct
186F RRMACLAK[S/F]SSRQPTG 1
proximal
184S RRMACL[A/S]AKSSRQPTG 1
proximal
187F RRMACLAKS[S/F]SRQPTG 2
proximal
183V RRMAC[L/V]LAKSSRQPTG 2
proximal
Showing 1 to 5 of 19 rows

External references

dbSNP:

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