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 name | Exon | Codon | Common residue | Variant residue | Allele frequency | Mouse residue | cDNA sequence 5′→3′ | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BER | ||||||||||||||
ADPRT | 4 | 188 | Ala | Thr | 0.006 | Ser | TCCTT(G/A)CTACA | |||||||
ADPRT | 7 | 334 | Val | Ile | 0.011 | Val | AGTGG(G/A)TAACC | |||||||
ADPRT | 8 | 383 | Ser | Tyr | 0.014 | Ser | CTCCT(C/A)TGCTT | |||||||
ADPRT | 17 | 761 | Val | Ala | 0.18 | Val | CAAGG(T/C)GGAAA | |||||||
ADPRT | 21 | 940 | Lys | Arg | 0.011 | Lys | CAGCA(A/G)GTTAC | |||||||
APE1 | 3 | 51 | Gln | His | 0.03 | Gln | GATCA(G/C)AAAAC | |||||||
APE1 | 3 | 64 | Ile | Val | 0.01 | Ile | TCAAG(A/G)TCTGC | |||||||
APE1 | 5 | 148 | Asp | Glu | 0.33 | Glu | GGCGA(T/G)GAGGA | |||||||
APE1 | 5 | 241 | Gly | Arg | 0.01 | Gly | GCTTC(G/A)GGGAA | |||||||
FEN1 | No variants | |||||||||||||
LIG1 | 3 | 24 | Ala | Val | 0.01 | Thr | GGAGG(C/T)ATCCA | |||||||
LIG1 | 4 | 62 | Arg | Trp | 0.01 | Gln | CGGCC(C/T)GGGTC | |||||||
LIG1 | 9 | 249 | Gly | Glu | 0.01 | Gly | GCCAG(G/A)GGCTC | |||||||
LIG1 | 10 | 267 | Asn | Ser | 0.02 | Asn | TTACA(A/G)TCCTG | |||||||
LIG1 | 13 | 369 | Val | Ile | 0.01 | Ile | AGTCC(G/A)TCCGG | |||||||
LIG1 | 13 | 409 | Arg | His | 0.01 | Cys | GTTCC(G/A)CGACA | |||||||
LIG1 | 16 | 480 | Met | Val | 0.01 | Val | CAGCC(A/G)TGGTG | |||||||
LIG1 | 20 | 614 | Thr | Ile | 0.01 | Thr | GGTCA(C/T)ATCCT | |||||||
LIG1 | 22 | 673 | Glu | Asp | 0.01 | Gln | CGTGA(G/T)CCCCT | |||||||
LIG1 | 22 | 677 | Arg | Leu | 0.01 | Arg | TTCCC(G/T)GCGCC | |||||||
LIG3 | 18 | 780 | Arg | His | 0.03 | Cys | GTCCC(G/A)CAAGG | |||||||
LIG3 | 19 | 811 | Lys | Thr | 0.01 | Lys | TGCAA(A/C)GCCTT | |||||||
LIG3 | 21 | 899 | Pro | Ser | 0.01 | Thr | AGAAC(C/T)CTGCG | |||||||
NTHL1 | 1 | 21 | Arg | Trp | 0.006 | Arg | GGAGC(C/T)GGAGC | |||||||
NTHL1 | 1 | 31 | Gly | Val | 0.006 | Gly | GCGGG(G/T)GTGTA | |||||||
NTHL1 | 1 | 33 | Arg | Lys | 0.006 | Arg | GTGTA(G/A)GGAGG | |||||||
NTHL1 | 3 | 176 | Ile | Thr | 0.005 | Ile | GCTCA(T/C)CTACC | |||||||
NTHL1 | 4 | 234 | Ser | Leu | 0.006 | Ser | TGTGT(C/T)AGGCA | |||||||
NUDT1 | 3 | 83 | Val | Met | 0.006 | Val | TGGAC(G/A)TGCAT | |||||||
NUDT1 | 4 | 135 | Gly | Trp | 0.006 | Gly | TCCAC(G/T)GGTAC | |||||||
PCNA | No variants | |||||||||||||
POLB | 1 | 8 | Gln | Arg | 0.01 | Gln | GCCGC(A/G)GGAGA | |||||||
POLB | 7 | 137 | Arg | Gln | 0.006 | Arg | TCAGC(G/A)AATTG | |||||||
POLB | 12 | 242 | Pro | Arg | 0.005 | Pro | GCTTC(C/G)CAGTA | |||||||
POLD1 | 1 | 19 | Arg | His | 0.12 | Arg | GGCCC(G/A)TGGGG | |||||||
POLD1 | 1 | 30 | Arg | Trp | 0.006 | Ser | CACCT(C/T)GGCCA | |||||||
POLD1 | 3 | 119 | Arg | His | 0.15 | Arg | ATCCC(G/A)CGGCT | |||||||
POLD1 | 4 | 173 | Ser | Asn | 0.05 | Ser | CATCA(G/A)CCGGG | |||||||
POLD1 | 4 | 177 | Arg | His | 0.003 | Arg | CAGTC(G/A)CGGGG | |||||||
POLD1 | 19 | 849 | Arg | His | 0.011 | Arg | ACTGC(G/A)CCGCC | |||||||
POLD1 | 26 | 1086 | Arg | Gln | 0.01 | Arg | GGTGC(G/A)GAAGG | |||||||
POLD2 | 8 | 303 | Asn | Ser | 0.005 | Asn | CACCA(A/G)TTACA | |||||||
XRCC1 | 3 | 72 | Val | Ala | 0.03 | Val | GCTGG(T/C)GGGCA | |||||||
XRCC1 | 5 | 161 | Pro | Leu | 0.005 | Thr | GGCCC(C/T)GTCCC | |||||||
XRCC1 | 5 | 173 | Phe | Leu | 0.005 | Phe | CAGTT(C/G)CGTGT | |||||||
XRCC1 | 6 | 194* | Arg | Trp | 0.13 | Arg | TCAGC(C/T)GGATC | |||||||
XRCC1 | 9 | 280* | Arg | His | 0.03 | Arg | AACTC(G/A)TACCC | |||||||
XRCC1 | 9 | 309 | Pro | Ser | 0.01 | Ala | GACGA(C/T)CCCGA | |||||||
XRCC1 | 10 | 399* | Arg | Gln | 0.24 | Arg | CTCCC(G/A)GAGGT | |||||||
XRCC1 | 15 | 560 | Arg | Trp | 0.01 | Arg | AGCGG(C/T)GGAAA | |||||||
XRCC1 | 16 | 576 | Tyr | Ser | 0.01 | Tyr | GGACT(A/C)TATGA |
NER | ||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERCC1 | No variants | |||||||||||||
ERCC2 | 8 | 199* | Ile | Met | 0.01 | Ile | TCAAT(C/G)CTGCA | |||||||
ERCC2 | 8 | 201* | His | Tyr | 0.01 | His | TCCTG(C/T)ATGCC | |||||||
ERCC2 | 10 | 312* | Asp | Asn | 0.40 | Asp | TGCCC(G/A)ACGAA | |||||||
ERCC2 | 20 | 616 | Arg | Pro | 0.01 | Arg | CGGGC(G/C)GGCCG | |||||||
ERCC2 | 23 | 751* | Lys | Gln | 0.32 | Gln | CGCTG(A/C)AGAGG | |||||||
ERCC3 | No variants | |||||||||||||
ERCC4 | 7 | 379* | Pro | Ser | 0.03 | Pro | GCAAC(C/T)CAAAG | |||||||
ERCC4 | 8 | 415 | Arg | Gln | 0.06 | Arg | TGACC(G/A)AACAT | |||||||
ERCC5 | 4 | 141 | Asn | Asp | 0.02 | Asp | GAGAA(A/G)ACGAC | |||||||
ERCC5 | 7 | 254 | Met | Val | 0.012 | Met | AGGAA(A/G)TGAAT | |||||||
ERCC5 | 8 | 529 | Cys | Ser | 0.03 | Arg | AACTT(G/C)TACAA | |||||||
ERCC5 | 8 | 597 | Val | Leu | 0.011 | Met | AGGCA(G/C)TAGAT | |||||||
ERCC5 | 10 | 761 | Ala | Thr | 0.011 | Ala | GGATC(G/A)CTGCT | |||||||
ERCC5 | 15 | 1090 | Glu | Asp | 0.011 | Asp | GGGGA(G/C)ACCTG | |||||||
ERCC5 | 15 | 1104 | Asp | His | 0.18 | Asp | GTGAA(G/C)ATGCT | |||||||
LIG1 | See above | |||||||||||||
PCNA | See above | |||||||||||||
POLD1 | See above | |||||||||||||
POLD2 | See above | |||||||||||||
RAD23A | 5 | 200 | Thr | Met | 0.03 | Thr | GCTCA(C/T)GGGAA | |||||||
RAD23B | 7 | 249 | Ala | Val | 0.10 | Ala | TGGGG(C/T)TCCTC | |||||||
XPA | 6 | 256 | Met | Ile | 0.01 | Met | GACAT(G/C)TACCG | |||||||
XPC | 1 | 16 | Leu | Val | 0.04 | none | GCGAA(C/G)TGCGC | |||||||
XPC | 2 | 48 | Leu | Phe | 0.04 | Ser | GCCTT(C/T)TCTCC | |||||||
XPC | 8 | 492 | Arg | His | 0.04 | Arg | CCATC(G/A)TAAGG | |||||||
XPC | 8 | 499 | Ala | Val | 0.24 | Ala | GCCAG(C/T)GGCAT | |||||||
XPC | 15 | 939 | Lys | Gln | 0.38 | Lys | TTGAG(A/C)AGCTG |
DSB/RR | ||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LIG3 | See above | |||||||||||||
NBS1 | 4 | 142 | Asn | Ser | 0.006 | Asn | AAACA(A/G)TTGGA | |||||||
NBS1 | 5 | 185 | Gln | Glu | 0.34 | Glu | CAGTT(G/C)AGTCC | |||||||
NBS1 | 6 | 196 | Phe | Val | 0.005 | Phe | AAAGT(T/G)TTTAC | |||||||
NBS1 | 6 | 216 | Gln | Lys | 0.005 | His | GACGG(C/A)AGGAA | |||||||
NBS1 | 14 | 716 | Asn | Asp | 0.013 | Asn | GAAAG(A/G)ATACA | |||||||
RAD50 | 5 | 191 | Thr | Ile | 0.01 | Thr | AGAAA(C/T)ACTTC | |||||||
RAD50 | 16 | 884 | Arg | His | 0.024 | Arg | ACGTC(G/A)TCAGC | |||||||
RAD50 | 24 | 1239 | Arg | Gln | 0.01 | Arg | TGACC(G/A)AGAAA | |||||||
RAD51 | No variants | |||||||||||||
XRCC2 | 2 | 16 | Ala | Ser | 0.01 | Ala | TCCTT(G/T)CCCGA | |||||||
XRCC2 | 3 | 188 | Arg | His | 0.05 | Arg | CTATC(G/A)CCTGG | |||||||
XRCC3 | 7 | 241* | Thr | Met | 0.43 | Thr | GGCCA(C/T)GCTGC | |||||||
XRCC4 | 1 | 12 | Ser | Cys | 0.01 | Ser | TGTTT(C/G)TGAAC | |||||||
XRCC4 | 2 | 75 | Leu | Ser | 0.006 | Val | ATTGT(T/C)GTCAG | |||||||
XRCC4 | 3 | 134 | Ile | Thr | 0.016 | Ile | CACCA(T/C)TGCAG | |||||||
XRCC4 | 3 | 137 | Asn | Cys | 0.005 | Lys | GAAAA(T/G)CAAGC | |||||||
XRCC4 | 5 | 247 | Ala | Ser | 0.08 | Ala | GGTTG(G/T)CTTCA |
Damage recognition and cell cycle checkpoints | ||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDK4 | 2 | 20 | Val | Leu | 0.03 | Val | GGACA(G/T)TGTAC | |||||||
CDKN2A | 2 | 148 | Ala | Thr | 0.05 | Leu | ATGCC(G/A)CGGAA | |||||||
FANCG | 7 | 297 | Thr | Ile | 0.01 | Ala | CACAA(C/T)AGCAG | |||||||
FANCG | 8 | 330 | Pro | Ser | 0.01 | Pro | TACTG(C/T)CACCA | |||||||
FANCG | 9 | 378 | Ser | Leu | 0.02 | Ser | TAGCT(C/T)GGAGC | |||||||
FANCG | 10 | 464 | Val | Phe | 0.01 | Ser | CCTGG(G/T)TTCAA | |||||||
RAD52 | 4 | 70 | Arg | Trp | 0.005 | Arg | GTCAT(C/T)GGGTA | |||||||
RAD52 | 7 | 221 | Gln | Glu | 0.011 | Glu | TGCAG(C/G)AGGTG | |||||||
RAD52 | 8 | 287 | Ser | Asn | 0.05 | His | GAAGA(G/A)TGAGG | |||||||
RAD54L | 4 | 74 | Ile | Met | 0.006 | Ile | TTTAT(T/G)CGAAG | |||||||
RAD54L | 7 | 202 | Arg | Cys | 0.006 | Arg | TTTTA(C/T)GCCAG | |||||||
RAD54L | 10 | 380 | Arg | Gln | 0.011 | Arg | GGAGC(G/A)GCTGC | |||||||
RAD54L | 16 | 583 | Ile | Thr | 0.01 | Ile | TCTCA(T/C)TGGGG | |||||||
MLH1 | 8 | 213 | Val | Met | 0.04 | Val | CAACC(G/A)TGGGAC | |||||||
MLH1 | 8 | 219 | Ile | Val | 0.12 | Ile | GCTCC(A/G)TCTTT | |||||||
MLH1 | 11 | 325 | Arg | Gln | 0.01 | Arg | GGAGC(G/A)GGTGC | |||||||
MLH1 | 11 | 326 | Val | Ala | 0.01 | Val | GCGGG(T/C)GCAGC | |||||||
MLH1 | 12 | 452 | Thr | Ser | 0.01 | Leu | ATACA(A/T)CAAAG | |||||||
MLH1 | 16 | 618 | Lys | Ala | 0.01 | Lys | AGAAG(A/G)&(A/C)GGCTG | |||||||
MLH1 | 16 | 618 | Lys | Thr or Glu | 0.01 | Lys | AGAAG(A/G)or(A/C)GGCTG | |||||||
MLH1 | 19 | 718 | His | Tyr | 0.01 | His | TGGAA(C/T)ACATTG | |||||||
MSH2 | 3 | 127 | Asn | Ser | 0.006 | Asn | TGGCA(A/G)TCTCT | |||||||
MSH2 | 3 | 170 | Gln | Glu | 0.006 | Gln | CCATA(C/G)AGAGG | |||||||
MSH2 | 6 | 319 | Asp | Val | 0.009 | Asp | TGAAG(A/T)TACCA | |||||||
MSH2 | 6 | 322 | Gly | Asp | 0.011 | Gly | CACTG(G/A)CTCTC | |||||||
MSH2 | 7 | 390 | Leu | Phe | 0.005 | Leu | ACCGA(C/T)TTGCC |
MMR | ||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MSH2 | 13 | 735 | Ile | Val | 0.006 | Ile | CTTCT(A/G)TCCTC | |||||||
MSH3 | 8 | 429 | Ala | Val | 0.04 | Met | AGAGG(C/T)GCTCA | |||||||
MSH3 | 9 | 456 | Tyr | Cys | 0.006 | Tyr | TGAAT(A/G)CAGCC | |||||||
MSH3 | 10 | 514 | Glu | Lys | 0.05 | Glu | AACCT(G/A)AGAAT | |||||||
MSH3 | 13 | 597 | Ser | Asn | 0.014 | Ser | ATCTA(G/A)TGTGT | |||||||
MSH3 | 15 | 700 | Phe | Leu | 0.005 | Phe | CTGAC(T/C)TCCCT | |||||||
MSH3 | 21 | 931 | Gly | Cys | 0.006 | Gly | GGATG(G/T)GTGCT | |||||||
MSH3 | 21 | 940 | Arg | Gln | 0.10 | Arg | AGGAC(G/A)GAGTA | |||||||
MSH3 | 23 | 1036 | Thr | Ala | 0.30 | Asp | CAGGC(A/G)CAGCA | |||||||
MSH6 | 1 | 25 | Ala | Val | 0.003 | Ala | CTCGG(C/T)CAGGG | |||||||
MSH6 | 1 | 39 | Gly | Glu | 0.24 | Gly | CCCCG(G/A)GGCCT | |||||||
MSH6 | 4 | 396 | Leu | Val | 0.009 | Leu | CTACA(C/G)TCTAT | |||||||
MSH6 | 4 | 878 | Val | Ala | 0.016 | Val | AGAAG(T/C)TGCTG | |||||||
MSH6 | 6 | 1152 | Val | Ile | 0.009 | Val | TAGCT(G/A)TAATG |