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HomeAll Cancer Mutant ClonesBUB1B Mutants

Description of the mutations of BUB1B (NM_001211) 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
RC402560 R36Q36107G>APremure hromid seprion syndrome
RC402561 R194X194580C>TMosi vrieed neuploidy
RC402562 R224X224670C>TPremure hromid seprion syndrome
RC402563 Q349R3491046A>GLeukemi, risk, ssoiion wih
RC402564 R550Q5501649G>AMosi vrieed neuploidy ?
RC402565 R814H8142441G>AMosi vrieed neuploidy
RC402566 L844F8442530C>TMosi vrieed neuploidy
RC402567 I909T9092726T>CMosi vrieed neuploidy
RC402568 Q921H9212763G>CMosi vrieed neuploidy
RC402569 L1012P10123035T>CMosi vrieed neuploidy

 

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