polymerase (DNA directed), epsilon, catalytic subunit (POLE) - coding DNA reference sequence

(used for variant description)

(last modified December 17, 2015)


This file was created to facilitate the description of sequence variants on transcript NM_006231.2 in the POLE gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000012.11, covering POLE transcript NM_006231.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5044
                 cgccaaatttctcccctgaagcagaggtggtagccaacggctcc       c.-1

          .         .         .         .         .         .       g.5104
 ATGTCTCTGAGGAGCGGCGGGCGGCGGCGCGCGGACCCAGGCGCGGATGGCGAGGCCAGC       c.60
 M  S  L  R  S  G  G  R  R  R  A  D  P  G  A  D  G  E  A  S         p.20

    | 02     .         .         .         .         .         .    g.11138
 AG | GGATGATGGCGCCACTTCCTCAGTTTCGGCACTCAAGCGCCTGGAACGGAGTCAGTGG    c.120
 R  |  D  D  G  A  T  S  S  V  S  A  L  K  R  L  E  R  S  Q  W      p.40

          .         .         .         .         .         .       g.11198
 ACGGATAAGATGGATTTGCGGTTTGGTTTTGAGCGGCTGAAGGAGCCTGGTGAGAAGACA       c.180
 T  D  K  M  D  L  R  F  G  F  E  R  L  K  E  P  G  E  K  T         p.60

          .         .     | 03   .         .         .         .    g.11708
 GGCTGGCTCATTAACATGCATCCT | ACCGAGATTTTAGATGAAGATAAGCGCTTAGGCAGT    c.240
 G  W  L  I  N  M  H  P   | T  E  I  L  D  E  D  K  R  L  G  S      p.80

          .         .         .         .      | 04  .         .    g.12152
 GCAGTGGATTACTACTTTATTCAAGATGACGGAAGCAGATTTAAG | GTGGCTTTGCCCTAT    c.300
 A  V  D  Y  Y  F  I  Q  D  D  G  S  R  F  K   | V  A  L  P  Y      p.100

          .         .         . | 05       .         .         .    g.12343
 AAACCGTATTTCTACATTGCGACCAGAAAG | GGTTGTGAGCGAGAAGTTTCATCTTTTCTC    c.360
 K  P  Y  F  Y  I  A  T  R  K   | G  C  E  R  E  V  S  S  F  L      p.120

          .         .         .         .         .         .       g.12403
 TCCAAGAAGTTTCAGGGCAAAATTGCAAAAGTGGAGACTGTCCCCAAAGAGGATCTGGAC       c.420
 S  K  K  F  Q  G  K  I  A  K  V  E  T  V  P  K  E  D  L  D         p.140

     | 06    .         .         .         .         .         .    g.12765
 TTG | CCAAATCACTTGGTGGGTTTGAAGCGAAATTACATCAGGCTGTCCTTCCACACTGTG    c.480
 L   | P  N  H  L  V  G  L  K  R  N  Y  I  R  L  S  F  H  T  V      p.160

          .         .         .         .         .         .       g.12825
 GAGGATCTTGTCAAAGTGAGGAAGGAGATCTCCCCTGCCGTGAAGAAGAACAGGGAGCAG       c.540
 E  D  L  V  K  V  R  K  E  I  S  P  A  V  K  K  N  R  E  Q         p.180

          .         .         .         | 07         .         .    g.14662
 GATCACGCCAGCGACGCGTACACAGCTCTGCTTTCCAG | TGTTCTGCAGAGGGGCGGTGTC    c.600
 D  H  A  S  D  A  Y  T  A  L  L  S  S  |  V  L  Q  R  G  G  V      p.200

          .         .         .         .         .         .       g.14722
 ATTACTGATGAAGAGGAAACCTCTAAGAAGATAGCTGACCAGTTGGACAACATTGTGGAC       c.660
 I  T  D  E  E  E  T  S  K  K  I  A  D  Q  L  D  N  I  V  D         p.220

          .         .         .         .         .         .       g.14782
 ATGCGCGAGTACGATGTTCCCTACCACATCCGCCTCTCCATTGACCTGAAGATCCACGTG       c.720
 M  R  E  Y  D  V  P  Y  H  I  R  L  S  I  D  L  K  I  H  V         p.240

  | 08       .         .         .         .         .         .    g.14976
  | GCTCATTGGTACAATGTCAGATACCGAGGAAATGCTTTTCCGGTAGAAATCACCCGCCGA    c.780
  | A  H  W  Y  N  V  R  Y  R  G  N  A  F  P  V  E  I  T  R  R      p.260

          .         .  | 09      .         .         .         .    g.15745
 GATGACCTTGTTGAACGACCT | GACCCTGTGGTTTTGGCATTTGACATTGAGACGACCAAA    c.840
 D  D  L  V  E  R  P   | D  P  V  V  L  A  F  D  I  E  T  T  K      p.280

          .         .         .         .         .         .       g.15805
 CTGCCCCTCAAGTTTCCTGATGCTGAGACAGACCAGATTATGATGATTTCCTACATGATC       c.900
 L  P  L  K  F  P  D  A  E  T  D  Q  I  M  M  I  S  Y  M  I         p.300

           | 10        .         .         .         .         .    g.16206
 GATGGCCAG | GGCTACCTCATCACCAACAGGGAGATTGTTTCAGAAGATATTGAAGATTTT    c.960
 D  G  Q   | G  Y  L  I  T  N  R  E  I  V  S  E  D  I  E  D  F      p.320

          .         .         .         .         .         .       g.16266
 GAGTTCACCCCCAAGCCAGAATATGAAGGCCCCTTTTGTGTCTTCAATGAACCCGATGAG       c.1020
 E  F  T  P  K  P  E  Y  E  G  P  F  C  V  F  N  E  P  D  E         p.340

  | 11       .         .         .         .         .         .    g.16599
  | GCTCATCTGATCCAAAGGTGGTTTGAACACGTCCAGGAGACCAAACCCACCATCATGGTC    c.1080
  | A  H  L  I  Q  R  W  F  E  H  V  Q  E  T  K  P  T  I  M  V      p.360

          .         .       | 12 .         .         .         .    g.16876
 ACCTACAACGGGGACTTTTTTGACTG | GCCATTTGTGGAGGCCCGGGCAGCAGTCCACGGT    c.1140
 T  Y  N  G  D  F  F  D  W  |  P  F  V  E  A  R  A  A  V  H  G      p.380

          .         .         .         .         .         .       g.16936
 CTGAGCATGCAGCAGGAGATAGGCTTCCAGAAGGACAGCCAGGGGGAGTACAAGGCGCCC       c.1200
 L  S  M  Q  Q  E  I  G  F  Q  K  D  S  Q  G  E  Y  K  A  P         p.400

          .         .       | 13 .         .         .         .    g.18686
 CAGTGCATCCACATGGACTGCCTCAG | GTGGGTGAAGAGGGACAGTTACCTTCCTGTGGGC    c.1260
 Q  C  I  H  M  D  C  L  R  |  W  V  K  R  D  S  Y  L  P  V  G      p.420

          .         .         .         .         .         .       g.18746
 AGTCATAATCTCAAGGCGGCCGCCAAGGCCAAGCTAGGCTATGATCCCGTGGAGCTAGAC       c.1320
 S  H  N  L  K  A  A  A  K  A  K  L  G  Y  D  P  V  E  L  D         p.440

          .         .         .          | 14        .         .    g.19103
 CCGGAGGACATGTGCCGGATGGCCACGGAGCAGCCCCAG | ACTCTGGCCACGTATTCTGTG    c.1380
 P  E  D  M  C  R  M  A  T  E  Q  P  Q   | T  L  A  T  Y  S  V      p.460

          .         .         .         .         .         .       g.19163
 TCAGATGCTGTCGCCACTTACTACCTGTACATGAAGTACGTCCACCCATTCATCTTTGCT       c.1440
 S  D  A  V  A  T  Y  Y  L  Y  M  K  Y  V  H  P  F  I  F  A         p.480

          .         .         .    | 15    .         .         .    g.19547
 CTGTGCACCATTATTCCCATGGAGCCCGACGAG | GTGCTGCGGAAGGGCTCTGGCACTCTG    c.1500
 L  C  T  I  I  P  M  E  P  D  E   | V  L  R  K  G  S  G  T  L      p.500

          .         .         .         .         .         .       g.19607
 TGTGAGGCCTTGCTGATGGTGCAGGCCTTCCACGCCAACATCATCTTCCCCAACAAGCAA       c.1560
 C  E  A  L  L  M  V  Q  A  F  H  A  N  I  I  F  P  N  K  Q         p.520

          .         .         .         .         .         .       g.19667
 GAGCAGGAGTTCAATAAGCTGACGGACGACGGACACGTGCTGGACTCTGAGACCTACGTC       c.1620
 E  Q  E  F  N  K  L  T  D  D  G  H  V  L  D  S  E  T  Y  V         p.540

          .         .         .         .         .         .       g.19727
 GGGGGCCACGTGGAGGCCCTCGAGTCTGGGGTTTTCCGCAGCGATATCCCTTGCCGGTTT       c.1680
 G  G  H  V  E  A  L  E  S  G  V  F  R  S  D  I  P  C  R  F         p.560

        | 16 .         .         .         .         .         .    g.20091
 AGGATG | AATCCTGCCGCCTTTGACTTCCTGCTGCAGCGGGTTGAGAAGACCTTGCGCCAC    c.1740
 R  M   | N  P  A  A  F  D  F  L  L  Q  R  V  E  K  T  L  R  H      p.580

          .         .         .         .         .     | 17   .    g.23426
 GCCCTTGAGGAAGAGGAGAAAGTGCCTGTGGAGCAAGTCACCAACTTTGAAGAG | GTGTGT    c.1800
 A  L  E  E  E  E  K  V  P  V  E  Q  V  T  N  F  E  E   | V  C      p.600

          .         .         .         .         .         .       g.23486
 GATGAGATTAAGAGCAAGCTTGCCTCCCTGAAGGACGTTCCCAGCCGCATCGAGTGTCCA       c.1860
 D  E  I  K  S  K  L  A  S  L  K  D  V  P  S  R  I  E  C  P         p.620

          .         .         .         .         .         .       g.23546
 CTCATCTACCACCTGGACGTGGGGGCCATGTACCCCAACATCATCCTGACCAACCGCCTG       c.1920
 L  I  Y  H  L  D  V  G  A  M  Y  P  N  I  I  L  T  N  R  L         p.640

     | 18    .         .         .         .         .         .    g.23679
 CAG | CCCTCTGCCATGGTGGACGAAGCCACCTGTGCTGCCTGTGACTTCAATAAGCCTGGA    c.1980
 Q   | P  S  A  M  V  D  E  A  T  C  A  A  C  D  F  N  K  P  G      p.660

          .         .         .         .       | 19 .         .    g.23871
 GCAAACTGCCAGCGGAAGATGGCCTGGCAGTGGAGGGGCGAGTTCA | TGCCAGCCAGTCGC    c.2040
 A  N  C  Q  R  K  M  A  W  Q  W  R  G  E  F  M |   P  A  S  R      p.680

          .         .         .         .         .         .       g.23931
 AGCGAATACCATCGGATCCAGCACCAGCTGGAGTCAGAGAAGTTCCCCCCCTTGTTCCCA       c.2100
 S  E  Y  H  R  I  Q  H  Q  L  E  S  E  K  F  P  P  L  F  P         p.700

          .         .         .         .         .         .       g.23991
 GAGGGGCCAGCTCGGGCCTTTCATGAACTGTCCCGCGAGGAACAGGCGAAATACGAGAAG       c.2160
 E  G  P  A  R  A  F  H  E  L  S  R  E  E  Q  A  K  Y  E  K         p.720

          .    | 20    .         .         .         .         .    g.24758
 AGAAGGCTGGCGG | ATTACTGCCGGAAAGCCTACAAGAAGATCCACATCACCAAGGTGGAA    c.2220
 R  R  L  A  D |   Y  C  R  K  A  Y  K  K  I  H  I  T  K  V  E      p.740

          .         .         .         .         .         .       g.24818
 GAGCGTCTCACCACCATCTGCCAGCGGGAAAACTCCTTCTACGTGGACACCGTGCGTGCC       c.2280
 E  R  L  T  T  I  C  Q  R  E  N  S  F  Y  V  D  T  V  R  A         p.760

          .         .         .          | 21        .         .    g.26930
 TTCCGGGACAGGCGTTACGAGTTCAAAGGGCTCCACAAG | GTGTGGAAAAAGAAGCTCTCG    c.2340
 F  R  D  R  R  Y  E  F  K  G  L  H  K   | V  W  K  K  K  L  S      p.780

          .         .         .         .         .         .       g.26990
 GCGGCCGTGGAGGTGGGCGACGCGGCTGAGGTGAAGCGCTGCAAGAACATGGAGGTGCTG       c.2400
 A  A  V  E  V  G  D  A  A  E  V  K  R  C  K  N  M  E  V  L         p.800

          .         .         .         .         .         .       g.27050
 TATGACTCGCTGCAGCTGGCCCACAAGTGCATCCTGAACTCCTTCTATGGCTATGTCATG       c.2460
 Y  D  S  L  Q  L  A  H  K  C  I  L  N  S  F  Y  G  Y  V  M         p.820

          | 22         .         .         .         .         .    g.27949
 CGCAAGGG | GGCTCGCTGGTACTCCATGGAGATGGCTGGCATCGTCTGCTTCACAGGGGCC    c.2520
 R  K  G  |  A  R  W  Y  S  M  E  M  A  G  I  V  C  F  T  G  A      p.840

          .         .         .         .  | 23      .         .    g.28230
 AACATCATCACCCAGGCACGGGAGCTGATCGAGCAGATTGG | GAGGCCCTTAGAGCTGGAC    c.2580
 N  I  I  T  Q  A  R  E  L  I  E  Q  I  G  |  R  P  L  E  L  D      p.860

          .         .         .         .         .         .       g.28290
 ACAGATGGTATATGGTGCGTCCTGCCCAACAGCTTCCCAGAAAATTTTGTCTTCAAGACG       c.2640
 T  D  G  I  W  C  V  L  P  N  S  F  P  E  N  F  V  F  K  T         p.880

          .         .         .         .         .         .       g.28350
 ACCAATGTGAAGAAGCCCAAAGTGACCATCTCCTACCCAGGCGCCATGTTGAACATCATG       c.2700
 T  N  V  K  K  P  K  V  T  I  S  Y  P  G  A  M  L  N  I  M         p.900

        | 24 .         .         .         .         .         .    g.30729
 GTCAAG | GAAGGCTTCACCAATGACCAGTACCAGGAGCTGGCTGAGCCGTCCTCACTCACC    c.2760
 V  K   | E  G  F  T  N  D  Q  Y  Q  E  L  A  E  P  S  S  L  T      p.920

          .         .         .         .         .         .       g.30789
 TACGTCACCCGCTCAGAGAACAGCATCTTTTTTGAGGTTGATGGGCCCTACCTTGCCATG       c.2820
 Y  V  T  R  S  E  N  S  I  F  F  E  V  D  G  P  Y  L  A  M         p.940

          .         .         .         .     | 25   .         .    g.31211
 ATTCTTCCAGCCTCCAAGGAAGAAGGCAAGAAATTGAAGAAGAG | GTATGCTGTGTTCAAT    c.2880
 I  L  P  A  S  K  E  E  G  K  K  L  K  K  R  |  Y  A  V  F  N      p.960

          .         .         .         .         .         .       g.31271
 GAAGACGGTTCTCTGGCTGAGCTCAAGGGCTTTGAGGTCAAACGCCGCGGGGAACTGCAG       c.2940
 E  D  G  S  L  A  E  L  K  G  F  E  V  K  R  R  G  E  L  Q         p.980

          .         .         .         .         .         .       g.31331
 CTGATTAAGATCTTCCAATCCTCGGTGTTTGAGGCCTTCCTCAAGGGCAGCACGCTGGAA       c.3000
 L  I  K  I  F  Q  S  S  V  F  E  A  F  L  K  G  S  T  L  E         p.1000

          .         .         .         .         .         .       g.31391
 GAGGTGTATGGCTCTGTAGCCAAGGTGGCTGACTACTGGCTGGACGTGCTGTACAGCAAG       c.3060
 E  V  Y  G  S  V  A  K  V  A  D  Y  W  L  D  V  L  Y  S  K         p.1020

  | 26       .         .         .         .         .         .    g.32910
  | GCAGCCAACATGCCTGACTCTGAGCTATTCGAGCTCATCTCTGAGAACCGTTCCATGTCT    c.3120
  | A  A  N  M  P  D  S  E  L  F  E  L  I  S  E  N  R  S  M  S      p.1040

          .         .         .         .         .         .       g.32970
 CGGAAGCTGGAAGATTACGGGGAGCAGAAGTCTACGTCCATCAGCACAGCAAAGCGCCTG       c.3180
 R  K  L  E  D  Y  G  E  Q  K  S  T  S  I  S  T  A  K  R  L         p.1060

          .         .         .         .         .         .       g.33030
 GCCGAGTTCCTGGGAGACCAGATGGTCAAGGATGCAGGGCTGAGTTGCCGCTACATCATC       c.3240
 A  E  F  L  G  D  Q  M  V  K  D  A  G  L  S  C  R  Y  I  I         p.1080

          .         .         .      | 27  .         .         .    g.34414
 TCCCGCAAGCCCGAGGGCTCCCCTGTCACGGAGAG | GGCCATCCCACTTGCCATTTTCCAA    c.3300
 S  R  K  P  E  G  S  P  V  T  E  R  |  A  I  P  L  A  I  F  Q      p.1100

          .         .         .         .         .         .       g.34474
 GCAGAGCCCACGGTGAGGAAGCACTTTCTCCGGAAATGGCTCAAGAGCTCTTCCCTTCAA       c.3360
 A  E  P  T  V  R  K  H  F  L  R  K  W  L  K  S  S  S  L  Q         p.1120

          .         | 28         .         .         .         .    g.34972
 GACTTTGATATTCGAGCA | ATTCTGGATTGGGACTACTACATTGAGCGGCTGGGAAGCGCC    c.3420
 D  F  D  I  R  A   | I  L  D  W  D  Y  Y  I  E  R  L  G  S  A      p.1140

          .         .         .          | 29        .         .    g.35122
 ATCCAGAAGATCATCACCATCCCTGCGGCCCTGCAGCAG | GTAAAGAACCCAGTGCCACGT    c.3480
 I  Q  K  I  I  T  I  P  A  A  L  Q  Q   | V  K  N  P  V  P  R      p.1160

          .         .         .         .         .         .       g.35182
 GTCAAACACCCCGACTGGCTGCACAAAAAACTGCTGGAGAAGAATGATGTCTACAAGCAG       c.3540
 V  K  H  P  D  W  L  H  K  K  L  L  E  K  N  D  V  Y  K  Q         p.1180

          .         .         .         .   | 30     .         .    g.42488
 AAGAAGATCAGTGAGCTCTTCACCCTGGAGGGCAGGAGACAG | GTCACGATGGCCGAGGCC    c.3600
 K  K  I  S  E  L  F  T  L  E  G  R  R  Q   | V  T  M  A  E  A      p.1200

          .         .         .         .         .         .       g.42548
 TCAGAAGACAGTCCGAGGCCAAGTGCTCCTGACATGGAGGACTTCGGCCTCGTAAAGCTG       c.3660
 S  E  D  S  P  R  P  S  A  P  D  M  E  D  F  G  L  V  K  L         p.1220

          .         .         .         .         .         .       g.42608
 CCTCACCCAGCAGCCCCTGTCACTGTGAAGAGGAAGCGAGTTCTTTGGGAGAGCCAGGAG       c.3720
 P  H  P  A  A  P  V  T  V  K  R  K  R  V  L  W  E  S  Q  E         p.1240

          .         .         .         .         .         .       g.42668
 GAGTCCCAGGACCTCACGCCGACTGTGCCCTGGCAGGAAATCTTGGGGCAGCCTCCCGCC       c.3780
 E  S  Q  D  L  T  P  T  V  P  W  Q  E  I  L  G  Q  P  P  A         p.1260

          .      | 31  .         .         .         .         .    g.42889
 CTGGGAACCAGCCAG | GAGGAATGGCTTGTCTGGCTCCGGTTCCACAAGAAGAAGTGGCAG    c.3840
 L  G  T  S  Q   | E  E  W  L  V  W  L  R  F  H  K  K  K  W  Q      p.1280

          .         .         .         .         .         .       g.42949
 CTGCAGGCCCGGCAGCGCCTCGCCCGCAGGAAGAGGCAGCGTCTGGAGTCGGCAGAGGGT       c.3900
 L  Q  A  R  Q  R  L  A  R  R  K  R  Q  R  L  E  S  A  E  G         p.1300

          .         .         .         .         .         .       g.43009
 GTGCTCAGGCCCGGGGCCATCCGGGATGGTCCTGCCACGGGGCTGGGGAGCTTCTTGCGA       c.3960
 V  L  R  P  G  A  I  R  D  G  P  A  T  G  L  G  S  F  L  R         p.1320

          .         .         .         .      | 32  .         .    g.43302
 AGAACTGCCCGCAGCATCCTGGACCTTCCGTGGCAGATTGTGCAG | ATCAGCGAGACCAGC    c.4020
 R  T  A  R  S  I  L  D  L  P  W  Q  I  V  Q   | I  S  E  T  S      p.1340

          .         .         .         .         .         .       g.43362
 CAGGCCGGCCTGTTCAGGCTGTGGGCGCTCGTTGGCAGTGACTTGCACTGCATCAGGCTG       c.4080
 Q  A  G  L  F  R  L  W  A  L  V  G  S  D  L  H  C  I  R  L         p.1360

          .         .         .         .         .         .       g.43422
 AGCATCCCCCGTGTGTTCTACGTGAACCAGCGAGTCGCTAAAGCGGAGGAGGGTGCTTCG       c.4140
 S  I  P  R  V  F  Y  V  N  Q  R  V  A  K  A  E  E  G  A  S         p.1380

           | 33        .         .         .         .         .    g.48433
 TATCGCAAG | GTAAATCGGGTCCTTCCTCGCTCCAACATGGTCTACAATCTCTATGAGTAT    c.4200
 Y  R  K   | V  N  R  V  L  P  R  S  N  M  V  Y  N  L  Y  E  Y      p.1400

          .         .         .         .         .         .       g.48493
 TCAGTGCCAGAGGACATGTACCAGGAACACATCAACGAGATCAACGCTGAGCTGTCAGCG       c.4260
 S  V  P  E  D  M  Y  Q  E  H  I  N  E  I  N  A  E  L  S  A         p.1420

          .         .         . | 34       .         .         .    g.48829
 CCAGACATCGAGGGCGTATATGAGACTCAG | GTTCCGTTACTGTTCCGGGCCCTGGTGCAC    c.4320
 P  D  I  E  G  V  Y  E  T  Q   | V  P  L  L  F  R  A  L  V  H      p.1440

          .         .         .         .         .         .       g.48889
 CTGGGCTGTGTGTGTGTGGTCAATAAACAGCTGGTGAGGCACCTTTCAGGCTGGGAAGCA       c.4380
 L  G  C  V  C  V  V  N  K  Q  L  V  R  H  L  S  G  W  E  A         p.1460

          .         .         .         .         .         .       g.48949
 GAGACCTTTGCTCTTGAGCACCTGGAGATGCGCTCTCTGGCCCAGTTCAGCTACCTGGAA       c.4440
 E  T  F  A  L  E  H  L  E  M  R  S  L  A  Q  F  S  Y  L  E         p.1480

      | 35   .         .         .         .         .         .    g.49085
 CCAG | GGAGTATCCGCCATATCTACCTGTACCACCACGCACAGGCCCACAAAGCGCTCTTC    c.4500
 P  G |   S  I  R  H  I  Y  L  Y  H  H  A  Q  A  H  K  A  L  F      p.1500

          .         .         .         .         .  | 36      .    g.49372
 GGGATCTTCATCCCCTCACAGCGCAGGGCATCCGTCTTTGTGCTGGACACT | GTGCGCAGC    c.4560
 G  I  F  I  P  S  Q  R  R  A  S  V  F  V  L  D  T   | V  R  S      p.1520

          .         .         .         .         .         .       g.49432
 AACCAGATGCCCAGCCTTGGCGCCCTGTACTCAGCAGAGCACGGCCTCCTCCTGGAGAAG       c.4620
 N  Q  M  P  S  L  G  A  L  Y  S  A  E  H  G  L  L  L  E  K         p.1540

          .         .         .         .         .         .       g.49492
 GTGGGCCCTGAGCTCCTGCCACCCCCCAAACACACCTTCGAAGTTCGGGCAGAAACTGAC       c.4680
 V  G  P  E  L  L  P  P  P  K  H  T  F  E  V  R  A  E  T  D         p.1560

          .         .         .         .         | 37         .    g.49642
 CTGAAGACCATCTGCAGAGCCATCCAGCGATTCCTGCTCGCCTACAAG | GAGGAGCGCCGG    c.4740
 L  K  T  I  C  R  A  I  Q  R  F  L  L  A  Y  K   | E  E  R  R      p.1580

          .         .         .         .         .         .       g.49702
 GGGCCCACACTCATCGCTGTTCAGTCCAGCTGGGAGCTGAAGAGGCTGGCCAGTGAAATT       c.4800
 G  P  T  L  I  A  V  Q  S  S  W  E  L  K  R  L  A  S  E  I         p.1600

          .         .         .         .         .         .       g.49762
 CCTGTCTTGGAGGAATTCCCACTGGTGCCTATCTGTGTGGCTGACAAGATCAACTATGGG       c.4860
 P  V  L  E  E  F  P  L  V  P  I  C  V  A  D  K  I  N  Y  G         p.1620

          .         .         .         .         .         .       g.49822
 GTCCTGGACTGGCAGCGCCATGGAGCCCGGCGCATGATCCGTCACTACCTCAACCTGGAC       c.4920
 V  L  D  W  Q  R  H  G  A  R  R  M  I  R  H  Y  L  N  L  D         p.1640

          .         .         .   | 38     .         .         .    g.49990
 ACCTGCCTGTCGCAGGCCTTCGAGATGAGCAG | GTACTTTCACATTCCCATTGGGAACCTA    c.4980
 T  C  L  S  Q  A  F  E  M  S  R  |  Y  F  H  I  P  I  G  N  L      p.1660

          .         .         .         .         .         .       g.50050
 CCAGAGGACATCTCCACATTCGGCTCCGACCTCTTCTTTGCCCGCCACCTCCAGCGCCAC       c.5040
 P  E  D  I  S  T  F  G  S  D  L  F  F  A  R  H  L  Q  R  H         p.1680

          .         .         .         .         .         .       g.50110
 AACCACCTGCTCTGGCTGTCCCCTACAGCCCGCCCTGACCTGGGTGGAAAGGAGGCTGAT       c.5100
 N  H  L  L  W  L  S  P  T  A  R  P  D  L  G  G  K  E  A  D         p.1700

          .         .         .         .         .         .       g.50170
 GACAACTGTCTTGTCATGGAGTTCGATGACCAAGCCACTGTTGAGATCAACAGTTCAGGC       c.5160
 D  N  C  L  V  M  E  F  D  D  Q  A  T  V  E  I  N  S  S  G         p.1720

          .    | 39    .         .         .         .         .    g.50555
 TGTTACTCCACAG | TGTGTGTGGAGCTGGACCTTCAGAACCTGGCCGTCAACACCATTCTC    c.5220
 C  Y  S  T  V |   C  V  E  L  D  L  Q  N  L  A  V  N  T  I  L      p.1740

          .         .         .         .         .         .       g.50615
 CAGTCTCACCATGTCAACGACATGGAGGGGGCCGACAGCATGGGGATCAGCTTCGACGTG       c.5280
 Q  S  H  H  V  N  D  M  E  G  A  D  S  M  G  I  S  F  D  V         p.1760

          .         .         .         .         .         .       g.50675
 ATCCAGCAGGCCTCCCTGGAGGACATGATCACGGGTGGTCAGGCTGCCAGTGCCCCGGCC       c.5340
 I  Q  Q  A  S  L  E  D  M  I  T  G  G  Q  A  A  S  A  P  A         p.1780

          .         .         .         | 40         .         .    g.53083
 AGCTACGATGAGACAGCCCTGTGCTCTAACACCTTCAG | GATCCTGAAGAGCATGGTCGTG    c.5400
 S  Y  D  E  T  A  L  C  S  N  T  F  R  |  I  L  K  S  M  V  V      p.1800

          .         .         .         .         .         .       g.53143
 GGCTGGGTGAAGGAGATCACCCAGTACCACAACATCTATGCAGACAACCAGGTGATGCAC       c.5460
 G  W  V  K  E  I  T  Q  Y  H  N  I  Y  A  D  N  Q  V  M  H         p.1820

          .         .         .         .         .         .       g.53203
 TTCTACCGCTGGCTTCGGTCGCCATCCTCTCTGCTTCATGACCCTGCCCTGCACCGCACA       c.5520
 F  Y  R  W  L  R  S  P  S  S  L  L  H  D  P  A  L  H  R  T         p.1840

          .         .         .   | 41     .         .         .    g.54248
 CTCCACAACATGATGAAGAAGCTCTTCCTGCA | GCTCATCGCTGAGTTCAAGCGCCTGGGG    c.5580
 L  H  N  M  M  K  K  L  F  L  Q  |  L  I  A  E  F  K  R  L  G      p.1860

          .         .         .         .         .         .       g.54308
 TCATCAGTCATCTACGCCAACTTCAACCGCATCATCCTCTGTACAAAGAAGCGCCGTGTG       c.5640
 S  S  V  I  Y  A  N  F  N  R  I  I  L  C  T  K  K  R  R  V         p.1880

          .         .         .         | 42         .         .    g.56357
 GAAGATGCCATCGCTTACGTGGAGTACATCACCAGCAG | CATCCATTCAAAGGAGACCTTC    c.5700
 E  D  A  I  A  Y  V  E  Y  I  T  S  S  |  I  H  S  K  E  T  F      p.1900

          .         .         .         .         .         .       g.56417
 CATTCTCTGACAATTTCTTTCTCTCGATGCTGGGAATTTCTTCTCTGGATGGATCCATCT       c.5760
 H  S  L  T  I  S  F  S  R  C  W  E  F  L  L  W  M  D  P  S         p.1920

          .         .         .         .         .  | 43      .    g.57990
 AACTATGGCGGAATCAAAGGAAAAGTTTCATCTCGTATTCACTGTGGACTG | CAAGACTCC    c.5820
 N  Y  G  G  I  K  G  K  V  S  S  R  I  H  C  G  L   | Q  D  S      p.1940

          .         .         .         .         .         .       g.58050
 CAGAAAGCAGGGGGAGCAGAGGATGAGCAGGAAAATGAGGACGATGAGGAGGAAAGAGAT       c.5880
 Q  K  A  G  G  A  E  D  E  Q  E  N  E  D  D  E  E  E  R  D         p.1960

          .         .         .         .         .         .       g.58110
 GGGGAGGAGGAGGAAGAGGCGGAGGAATCCAACGTGGAGGATTTACTGGAAAACAACTGG       c.5940
 G  E  E  E  E  E  A  E  E  S  N  V  E  D  L  L  E  N  N  W         p.1980

          .         .         .         .         .         .       g.58170
 AACATTTTGCAGTTTTTGCCACAGGCAGCCTCCTGCCAGAACTACTTCCTCATGATTGTT       c.6000
 N  I  L  Q  F  L  P  Q  A  A  S  C  Q  N  Y  F  L  M  I  V         p.2000

      | 44   .         .         .         .         .         .    g.59620
 TCAG | CGTACATCGTGGCCGTGTACCACTGCATGAAGGACGGGCTGAGGCGCAGTGCTCCA    c.6060
 S  A |   Y  I  V  A  V  Y  H  C  M  K  D  G  L  R  R  S  A  P      p.2020

          .         .         .         .         .         .       g.59680
 GGGAGCACCCCCGTGAGGAGGAGGGGGGCCAGCCAGCTCTCCCAGGAGGCCGAGGGGGCG       c.6120
 G  S  T  P  V  R  R  R  G  A  S  Q  L  S  Q  E  A  E  G  A         p.2040

          .       | 45 .         .         .         .         .    g.59895
 GTCGGAGCCCTTCCCG | GAATGATCACCTTCTCTCAGGATTATGTCGCAAATGAGCTCACT    c.6180
 V  G  A  L  P  G |   M  I  T  F  S  Q  D  Y  V  A  N  E  L  T      p.2060

          .         .         .         .         .         .       g.59955
 CAGAGCTTCTTCACCATCACTCAGAAGATTCAGAAGAAAGTCACAGGCTCTCGGAACTCC       c.6240
 Q  S  F  F  T  I  T  Q  K  I  Q  K  K  V  T  G  S  R  N  S         p.2080

          .         .         .         .         .         .       g.60015
 ACTGAGCTCTCAGAGATGTTTCCTGTCCTCCCCGGTTCCCACTTGCTGCTCAATAACCCT       c.6300
 T  E  L  S  E  M  F  P  V  L  P  G  S  H  L  L  L  N  N  P         p.2100

          .         .         . | 46       .         .         .    g.66072
 GCCCTGGAGTTCATCAAATACGTGTGCAAG | GTGCTGTCCCTGGACACCAACATCACAAAC    c.6360
 A  L  E  F  I  K  Y  V  C  K   | V  L  S  L  D  T  N  I  T  N      p.2120

          .         .         .         .         .         .       g.66132
 CAGGTGAATAAGCTGAACCGAGACCTGCTTCGCCTGGTGGATGTCGGCGAGTTCTCCGAG       c.6420
 Q  V  N  K  L  N  R  D  L  L  R  L  V  D  V  G  E  F  S  E         p.2140

          .         .         .         .         .         .       g.66192
 GAGGCCCAGTTCCGAGACCCCTGCCGCTCCTACGTGCTTCCTGAGGTCATCTGCCGCAGC       c.6480
 E  A  Q  F  R  D  P  C  R  S  Y  V  L  P  E  V  I  C  R  S         p.2160

          .         .         .         .         .  | 47      .    g.66598
 TGTAACTTCTGCCGCGACCTGGACCTGTGTAAAGACTCTTCCTTCTCAGAG | GATGGGGCG    c.6540
 C  N  F  C  R  D  L  D  L  C  K  D  S  S  F  S  E   | D  G  A      p.2180

          .         .         .         .         .         .       g.66658
 GTCCTGCCTCAGTGGCTCTGCTCCAACTGTCAGGCGCCCTACGACTCCTCTGCCATCGAG       c.6600
 V  L  P  Q  W  L  C  S  N  C  Q  A  P  Y  D  S  S  A  I  E         p.2200

          .         .         .         .         .        | 48.    g.67368
 ATGACGCTGGTGGAAGTTCTACAGAAGAAGCTGATGGCCTTCACCCTGCAGGACCTG | GTC    c.6660
 M  T  L  V  E  V  L  Q  K  K  L  M  A  F  T  L  Q  D  L   | V      p.2220

          .         .         .         .         .         .       g.67428
 TGCCTGAAGTGCCGCGGGGTGAAGGAGACCAGCATGCCTGTGTACTGCAGCTGCGCGGGA       c.6720
 C  L  K  C  R  G  V  K  E  T  S  M  P  V  Y  C  S  C  A  G         p.2240

          .         .        | 49.         .         .         .    g.67582
 GACTTCGCCCTCACCATCCACACCCAG | GTCTTCATGGAACAGATCGGAATATTCCGGAAC    c.6780
 D  F  A  L  T  I  H  T  Q   | V  F  M  E  Q  I  G  I  F  R  N      p.2260

          .         .         .         .         .         .       g.67642
 ATTGCCCAGCACTACGGCATGTCGTACCTCCTGGAGACCCTGGAGTGGCTGCTGCAGAAG       c.6840
 I  A  Q  H  Y  G  M  S  Y  L  L  E  T  L  E  W  L  L  Q  K         p.2280

          .         .                                               g.67663
 AACCCACAGCTGGGCCATTAG                                              c.6861
 N  P  Q  L  G  H  X                                                p.2286

          .         .         .         .         .         .       g.67723
 ccagccccgggccccgggtgcctctgcgtccgtgccaggcctcctgatgccaaggccaca       c.*60

          .         .         .         .         .         .       g.67783
 tccccgtgcttccagtgaccagaccactgaccaccctgactgtccaaacctgtgacccca       c.*120

          .         .         .         .         .         .       g.67843
 ggccagggaacggggaggaaaccaaagaaaaccattttcagggagctcagacgtcacagg       c.*180

          .         .         .         .         .         .       g.67903
 agggagcgggagcaggatgtggccctggcctcgccagagcacctgaagaagcaggccgtg       c.*240

          .         .         .         .         .         .       g.67963
 agcgaggctgcgagtgccctgggcgccgtttctcacgcagtgaatgcttttccaggcctc       c.*300

          .         .         .         .         .         .       g.68023
 tgttgcttcctgcaccacacctggtggggtgggagcgtcctctaggtgcccctagttctt       c.*360

          .         .         .         .         .         .       g.68083
 tgtcctgcctcccagagggaggaaaagcccctgggggcttctggctccctgagattgggc       c.*420

          .         .         .         .         .         .       g.68143
 tctgagacgagacgggttcccaaggccctggtggggctggagtctcacctgtttgcatgg       c.*480

          .         .         .         .         .         .       g.68203
 agaaatgggctggccccacagcctcacaggagcagtttgtgggctggtttccccaggaat       c.*540

          .         .         .         .         .         .       g.68263
 ccagaccctaacccgtgagaatctggattttggcttgtgagccctgcttatttggagccg       c.*600

          .         .         .         .         .         .       g.68323
 ggtctagagggaaccctctatcagcctcaggaaaacaagacctctgtgcacctcactttt       c.*660

          .         .         .         .         .         .       g.68383
 ggctcactgcagcccttgtccttcacctccacacaggaccagctggaagcagaaagaaga       c.*720

          .         .         .         .         .         .       g.68443
 aaggccaatttcacagggcaccaaacaagtatgaaatgtaaatcagaaatgcagacaccc       c.*780

          .         .         .         .         .         .       g.68503
 cagacgagagcctcacaggagggagggggccccacaggctccccaggaggctcgtgtctt       c.*840

          .         .         .         .         .         .       g.68563
 tggcccagagccagccttagtttgtccctgccatctactgtctgaggccatcgctgctac       c.*900

          .         .         .                                     g.68598
 actttgtttttatttgtatttcatactgaagtttc                                c.*935

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The Polymerase (DNA directed), epsilon, catalytic subunit protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

Powered by LOVD v.3.0 Build 14c
©2004-2015 Leiden University Medical Center