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HomeAll Cancer Mutant ClonesCBLB Mutants

Description of the mutations of CBLB (NM_170662) Mutants

Keys for Mutation Description

A.A. substitution
Truncation
NT deletion
NT insertion
R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted

 

SKUMutation DescriptionAffected Codon#Affected NT#DescriptionEffect
RC403747 A155v155464C>TDiabetes, type 1
RC403748 F328L328982T>CDiabetes, type 1
RC403749 K837R8372510A>GDiabetes, type 1
RC403750 T882A8822644A>GDiabetes, type 1
RC403751 R968L9682903G>TDiabetes, type 1

 

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