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HomeAll Cancer Mutant ClonesCDKN1B Mutants

Description of the mutations of CDKN1B (NM_004064) 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
RC402691 W76X76227G>APituitary and parathyroid tumours
RC402692 v109G109326T>GProstate cancer, reduced risk, association with
RC402693 I119T119356T>CMyeloproliferative syndrome
RC402694 E172K172514G>AAcute lymphoblastic leukaemia

 

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