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HomeAll Cancer Mutant ClonesPRKCG Mutants

Description of the mutations of PRKCG (NM_002739) 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
RC402628 R41P41122G>CSpinocerebellar ataxia 14
RC402629 G63v63188G>TSpinocerebellar ataxia 14
RC402630 C77S77229T>ASpinocerebellar ataxia 14
RC402631 H101Q101303C>GSpinocerebellar ataxia 14
RC402632 H101Y101301C>TSpinocerebellar ataxia 14
RC402633 C114Y114341G>ASpinocerebellar ataxia 14
RC402634 G118D118353G>ASpinocerebellar ataxia 14
RC402635 S119F119356C>TSpinocerebellar ataxia 14
RC402636 S119P119355T>CSpinocerebellar ataxia 14
RC402637 G123E123368G>ASpinocerebellar ataxia 14
RC402638 G123R123367G>ASpinocerebellar ataxia 14
RC402639 Q127R127380A>GSpinocerebellar ataxia 14
RC402640 G128D128383G>ASpinocerebellar ataxia 14
RC402641 C131Y131392G>ASpinocerebellar ataxia 14
RC402642 C131R131391T>CSpinocerebellar ataxia 14
RC402643 v138E138413T>ASpinocerebellar ataxia 14
RC402644 G360S3601078G>ASpinocerebellar ataxia 14
RC402645 S361G3611081A>GSpinocerebellar ataxia 14
RC402646 F643L6431927T>CSpinocerebellar ataxia 14
RC402647 R659S6591975C>ARetinitis pigmentosa
RC402648 v692G6922075T>GSpinocerebellar ataxia 14

 

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