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HomeAll Cancer Mutant ClonesERCC2 Mutants

Description of the mutations of ERCC2 (NM_000400) 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
RC401996 G47R47139G>AXeroderm pimenosum
RC401997 S51F51152C>TXeroderm pimenosum
RC401998 T76A76226A>GXeroderm pimenosum
RC401999 R112H112335G>ATrihohiodysrophy
RC402000 D234N234700G>AXeroderm pimenosum
RC402001 C259Y259776G>ATrihohiodysrophy
RC402002 D312N312934G>AInresed response o UV, ssoiion wih
RC402003 R378H3781133G>AXeroderm pimenosum
RC402004 L461V4611381C>GXeroderm pimenosum
RC402005 L485P4851454T>CXeroderm pimenosum
RC402006 R487G4871459C>GTrihohiodysrophy
RC402007 R511Q5111532G>AXeroderm pimenosum
RC402008 S541R5411621A>CXeroderm pimenosum
RC402009 Y542C5421625A>GXeroderm pimenosum
RC402010 R592P5921775G>CTrihohiodysrophy
RC402011 A594P5941780G>CTrihohiodysrophy
RC402012 R601L6011802G>TXeroderm pimenosum
RC402013 R601W6011801C>TXeroderm pimenosum
RC402014 G602D6021805G>AXeroderm pimenosum
RC402015 R616P6161847G>CTrihohiodysrophy
RC402016 R616W6161846C>TXeroderm pimenosum
RC402017 R658H6581973G>ATrihohiodysrophy
RC402018 R658G6581972C>GTrihohiodysrophy
RC402019 R658C6581972C>TTrihohiodysrophy
RC402020 Q662X6621984C>TTrihohiodysrophy
RC402021 C663R6631987T>CTrihohiodysrophy
RC402022 R666W6661996C>TXeroderm pimenosum
RC402023 D673G6732018A>GTrihohiodysrophy
RC402024 G675R6752023G>CXeroderm pimenosum
RC402025 D681N6812041G>AXeroderm pimenosum
RC402026 R683Q6832048G>AXeroderm pimenosum
RC402027 R683W6832047C>TXeroderm pimenosum
RC402028 G713R7132137G>CTrihohiodysrophy
RC402029 R722W7222164C>TTrihohiodysrophy
RC402030 A725P7252173G>CTrihohiodysrophy
RC402031 Q726X7262176C>TXeroderm pimenosum
RC402032 K751Q7512251A>CBsl ell rinom, redued risk, ssoiion wih

 

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