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HomeAll Cancer Mutant ClonesMERTK Mutants

Description of the mutations of MERTK (NM_006343) 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
RC402805 L12P1235T>CRetinitis pigmentosa
RC402806 R20T2059G>CRetinal dystrophy
RC402807 C115G115343T>GRetinitis pigmentosa
RC402808 R651X6511951C>TRetinitis pigmentosa
RC402809 R722X7222164C>TRod-cone dystrophy
RC402810 R844C8442530C>TRod-cone dystrophy

 

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