Table 2

Amino acid substitution variants identified in DNA repair and repair-related genes

The common nucleotide followed by the variant nucleotide is enclosed in parentheses, and the codon for the amino acid residue is underlined and bold. The nine amino acid substitutions reported previously (25) are indicated with an asterisk.

Gene nameExonCodonCommon residueVariant residueAllele frequencyMouse residuecDNA sequence 5′→3′
BER
ADPRT 4188AlaThr0.006SerTCCTT(G/A)CTACA
ADPRT 7334ValIle0.011ValAGTGG(G/A)TAACC
ADPRT 8383SerTyr0.014SerCTCCT(C/A)TGCTT
ADPRT 17761ValAla0.18ValCAAGG(T/C)GGAAA
ADPRT 21940LysArg0.011LysCAGCA(A/G)GTTAC
APE1 351GlnHis0.03GlnGATCA(G/C)AAAAC
APE1 364IleVal0.01IleTCAAG(A/G)TCTGC
APE1 5148AspGlu0.33GluGGCGA(T/G)GAGGA
APE1 5241GlyArg0.01GlyGCTTC(G/A)GGGAA
FEN1 No variants
LIG1 324AlaVal0.01ThrGGAGG(C/T)ATCCA
LIG1 462ArgTrp0.01GlnCGGCC(C/T)GGGTC
LIG1 9249GlyGlu0.01GlyGCCAG(G/A)GGCTC
LIG1 10267AsnSer0.02AsnTTACA(A/G)TCCTG
LIG1 13369ValIle0.01IleAGTCC(G/A)TCCGG
LIG1 13409ArgHis0.01CysGTTCC(G/A)CGACA
LIG1 16480MetVal0.01ValCAGCC(A/G)TGGTG
LIG1 20614ThrIle0.01ThrGGTCA(C/T)ATCCT
LIG1 22673GluAsp0.01GlnCGTGA(G/T)CCCCT
LIG1 22677ArgLeu0.01ArgTTCCC(G/T)GCGCC
LIG3 18780ArgHis0.03CysGTCCC(G/A)CAAGG
LIG3 19811LysThr0.01LysTGCAA(A/C)GCCTT
LIG3 21899ProSer0.01ThrAGAAC(C/T)CTGCG
NTHL1 121ArgTrp0.006ArgGGAGC(C/T)GGAGC
NTHL1 131GlyVal0.006GlyGCGGG(G/T)GTGTA
NTHL1 133ArgLys0.006ArgGTGTA(G/A)GGAGG
NTHL1 3176IleThr0.005IleGCTCA(T/C)CTACC
NTHL1 4234SerLeu0.006SerTGTGT(C/T)AGGCA
NUDT1 383ValMet0.006ValTGGAC(G/A)TGCAT
NUDT1 4135GlyTrp0.006GlyTCCAC(G/T)GGTAC
PCNA No variants
POLB 18GlnArg0.01GlnGCCGC(A/G)GGAGA
POLB 7137ArgGln0.006ArgTCAGC(G/A)AATTG
POLB 12242ProArg0.005ProGCTTC(C/G)CAGTA
POLD1 119ArgHis0.12ArgGGCCC(G/A)TGGGG
POLD1 130ArgTrp0.006SerCACCT(C/T)GGCCA
POLD1 3119ArgHis0.15ArgATCCC(G/A)CGGCT
POLD1 4173SerAsn0.05SerCATCA(G/A)CCGGG
POLD1 4177ArgHis0.003ArgCAGTC(G/A)CGGGG
POLD1 19849ArgHis0.011ArgACTGC(G/A)CCGCC
POLD1 261086ArgGln0.01ArgGGTGC(G/A)GAAGG
POLD2 8303AsnSer0.005AsnCACCA(A/G)TTACA
XRCC1 372ValAla0.03ValGCTGG(T/C)GGGCA
XRCC1 5161ProLeu0.005ThrGGCCC(C/T)GTCCC
XRCC1 5173PheLeu0.005PheCAGTT(C/G)CGTGT
XRCC1 6194*ArgTrp0.13ArgTCAGC(C/T)GGATC
XRCC1 9280*ArgHis0.03ArgAACTC(G/A)TACCC
XRCC1 9309ProSer0.01AlaGACGA(C/T)CCCGA
XRCC1 10399*ArgGln0.24ArgCTCCC(G/A)GAGGT
XRCC1 15560ArgTrp0.01ArgAGCGG(C/T)GGAAA
XRCC1 16576TyrSer0.01TyrGGACT(A/C)TATGA
NER
ERCC1 No variants
ERCC2 8199*IleMet0.01IleTCAAT(C/G)CTGCA
ERCC2 8201*HisTyr0.01HisTCCTG(C/T)ATGCC
ERCC2 10312*AspAsn0.40AspTGCCC(G/A)ACGAA
ERCC2 20616ArgPro0.01ArgCGGGC(G/C)GGCCG
ERCC2 23751*LysGln0.32GlnCGCTG(A/C)AGAGG
ERCC3 No variants
ERCC4 7379*ProSer0.03ProGCAAC(C/T)CAAAG
ERCC4 8415ArgGln0.06ArgTGACC(G/A)AACAT
ERCC5 4141AsnAsp0.02AspGAGAA(A/G)ACGAC
ERCC5 7254MetVal0.012MetAGGAA(A/G)TGAAT
ERCC5 8529CysSer0.03ArgAACTT(G/C)TACAA
ERCC5 8597ValLeu0.011MetAGGCA(G/C)TAGAT
ERCC5 10761AlaThr0.011AlaGGATC(G/A)CTGCT
ERCC5 151090GluAsp0.011AspGGGGA(G/C)ACCTG
ERCC5 151104AspHis0.18AspGTGAA(G/C)ATGCT
LIG1 See above
PCNA See above
POLD1 See above
POLD2 See above
RAD23A 5200ThrMet0.03ThrGCTCA(C/T)GGGAA
RAD23B 7249AlaVal0.10AlaTGGGG(C/T)TCCTC
XPA 6256MetIle0.01MetGACAT(G/C)TACCG
XPC 116LeuVal0.04noneGCGAA(C/G)TGCGC
XPC 248LeuPhe0.04SerGCCTT(C/T)TCTCC
XPC 8492ArgHis0.04ArgCCATC(G/A)TAAGG
XPC 8499AlaVal0.24AlaGCCAG(C/T)GGCAT
XPC 15939LysGln0.38LysTTGAG(A/C)AGCTG
DSB/RR
LIG3 See above
NBS1 4142AsnSer0.006AsnAAACA(A/G)TTGGA
NBS1 5185GlnGlu0.34GluCAGTT(G/C)AGTCC
NBS1 6196PheVal0.005PheAAAGT(T/G)TTTAC
NBS1 6216GlnLys0.005HisGACGG(C/A)AGGAA
NBS1 14716AsnAsp0.013AsnGAAAG(A/G)ATACA
RAD50 5191ThrIle0.01ThrAGAAA(C/T)ACTTC
RAD50 16884ArgHis0.024ArgACGTC(G/A)TCAGC
RAD50 241239ArgGln0.01ArgTGACC(G/A)AGAAA
RAD51 No variants
XRCC2 216AlaSer0.01AlaTCCTT(G/T)CCCGA
XRCC2 3188ArgHis0.05ArgCTATC(G/A)CCTGG
XRCC3 7241*ThrMet0.43ThrGGCCA(C/T)GCTGC
XRCC4 112SerCys0.01SerTGTTT(C/G)TGAAC
XRCC4 275LeuSer0.006ValATTGT(T/C)GTCAG
XRCC4 3134IleThr0.016IleCACCA(T/C)TGCAG
XRCC4 3137AsnCys0.005LysGAAAA(T/G)CAAGC
XRCC4 5247AlaSer0.08AlaGGTTG(G/T)CTTCA
Damage recognition and cell cycle checkpoints
CDK4 220ValLeu0.03ValGGACA(G/T)TGTAC
CDKN2A 2148AlaThr0.05LeuATGCC(G/A)CGGAA
FANCG 7297ThrIle0.01AlaCACAA(C/T)AGCAG
FANCG 8330ProSer0.01ProTACTG(C/T)CACCA
FANCG 9378SerLeu0.02SerTAGCT(C/T)GGAGC
FANCG 10464ValPhe0.01SerCCTGG(G/T)TTCAA
RAD52 470ArgTrp0.005ArgGTCAT(C/T)GGGTA
RAD52 7221GlnGlu0.011GluTGCAG(C/G)AGGTG
RAD52 8287SerAsn0.05HisGAAGA(G/A)TGAGG
RAD54L 474IleMet0.006IleTTTAT(T/G)CGAAG
RAD54L 7202ArgCys0.006ArgTTTTA(C/T)GCCAG
RAD54L 10380ArgGln0.011ArgGGAGC(G/A)GCTGC
RAD54L 16583IleThr0.01IleTCTCA(T/C)TGGGG
MLH1 8213ValMet0.04ValCAACC(G/A)TGGGAC
MLH1 8219IleVal0.12IleGCTCC(A/G)TCTTT
MLH1 11325ArgGln0.01ArgGGAGC(G/A)GGTGC
MLH1 11326ValAla0.01ValGCGGG(T/C)GCAGC
MLH1 12452ThrSer0.01LeuATACA(A/T)CAAAG
MLH1 16618LysAla0.01LysAGAAG(A/G)&(A/C)GGCTG
MLH1 16618LysThr or Glu0.01LysAGAAG(A/G)or(A/C)GGCTG
MLH1 19718HisTyr0.01HisTGGAA(C/T)ACATTG
MSH2 3127AsnSer0.006AsnTGGCA(A/G)TCTCT
MSH2 3170GlnGlu0.006GlnCCATA(C/G)AGAGG
MSH2 6319AspVal0.009AspTGAAG(A/T)TACCA
MSH2 6322GlyAsp0.011GlyCACTG(G/A)CTCTC
MSH2 7390LeuPhe0.005LeuACCGA(C/T)TTGCC
MMR
MSH2 13735IleVal0.006IleCTTCT(A/G)TCCTC
MSH3 8429AlaVal0.04MetAGAGG(C/T)GCTCA
MSH3 9456TyrCys0.006TyrTGAAT(A/G)CAGCC
MSH3 10514GluLys0.05GluAACCT(G/A)AGAAT
MSH3 13597SerAsn0.014SerATCTA(G/A)TGTGT
MSH3 15700PheLeu0.005PheCTGAC(T/C)TCCCT
MSH3 21931GlyCys0.006GlyGGATG(G/T)GTGCT
MSH3 21940ArgGln0.10ArgAGGAC(G/A)GAGTA
MSH3 231036ThrAla0.30AspCAGGC(A/G)CAGCA
MSH6 125AlaVal0.003AlaCTCGG(C/T)CAGGG
MSH6 139GlyGlu0.24GlyCCCCG(G/A)GGCCT
MSH6 4396LeuVal0.009LeuCTACA(C/G)TCTAT
MSH6 4878ValAla0.016ValAGAAG(T/C)TGCTG
MSH6 61152ValIle0.009ValTAGCT(G/A)TAATG