damage-specific DNA binding protein 2, 48kDa (DDB2) - coding DNA reference sequence

(used for variant description)

(last modified August 30, 2023)

This file was created to facilitate the description of sequence variants on transcript NM_000107.2 in the DDB2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000011.9, covering DDB2 transcript NM_000107.2.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
                                                   .                g.5015
                                              ctccgagacgggtgg       c.-181

 .         .         .         .         .         .                g.5075
 ggccggagctccaagctggtttgaacaagccctgggcatgtttggcgggaagttggctta       c.-121

 .         .         .         .         .         .                g.5135
 gctcggctacctgtggccccgcagttttgtagtccccgccttgtttctccccagaggcct       c.-61

 .         .         .         .         .         .                g.5195
 ctcaatcctccctccatgatcttcgcatagagcacagtaccccttcacacggaggacgcg       c.-1

          .         .         .         .         .         .       g.5255
 ATGGCTCCCAAGAAACGCCCAGAAACCCAGAAGACCTCCGAGATTGTATTACGCCCCAGG       c.60
 M  A  P  K  K  R  P  E  T  Q  K  T  S  E  I  V  L  R  P  R         p.20

          .         .         .         .         .         .       g.5315
 AACAAGAGGAGCAGGAGTCCCCTGGAGCTGGAGCCCGAGGCCAAGAAGCTCTGTGCGAAG       c.120
 N  K  R  S  R  S  P  L  E  L  E  P  E  A  K  K  L  C  A  K         p.40

         | 02.         .         .         .         .         .    g.6447
 GGCTCCG | GTCCTAGCAGAAGATGTGACTCAGACTGCCTCTGGGTGGGGCTGGCTGGCCCA    c.180
 G  S  G |   P  S  R  R  C  D  S  D  C  L  W  V  G  L  A  G  P      p.60

          .         .         .         .         .         .       g.6507
 CAGATCCTGCCACCATGCCGCAGCATCGTCAGGACCCTCCACCAGCATAAGCTGGGCAGA       c.240
 Q  I  L  P  P  C  R  S  I  V  R  T  L  H  Q  H  K  L  G  R         p.80

          .         .     | 03   .         .         .         .    g.6952
 GCTTCCTGGCCATCTGTCCAGCAG | GGGCTCCAGCAGTCCTTTTTGCACACTCTGGATTCT    c.300
 A  S  W  P  S  V  Q  Q   | G  L  Q  Q  S  F  L  H  T  L  D  S      p.100

          .         .         .         .         .         .       g.7012
 TACCGGATATTACAAAAGGCTGCCCCCTTTGACAGGAGGGCTACATCCTTGGCGTGGCAC       c.360
 Y  R  I  L  Q  K  A  A  P  F  D  R  R  A  T  S  L  A  W  H         p.120

          .         .         .         .         .         .       g.7072
 CCAACTCACCCCAGCACTGTGGCTGTGGGTTCCAAAGGGGGAGATATCATGCTCTGGAAT       c.420
 P  T  H  P  S  T  V  A  V  G  S  K  G  G  D  I  M  L  W  N         p.140

          .         .         .       | 04 .         .         .    g.22896
 TTTGGCATCAAGGACAAACCCACCTTCATCAAAGGG | ATTGGAGCTGGAGGGAGCATCACT    c.480
 F  G  I  K  D  K  P  T  F  I  K  G   | I  G  A  G  G  S  I  T      p.160

          .         .         .         .         .         .       g.22956
 GGGCTGAAGTTTAACCCTCTCAATACCAACCAGTTTTACGCCTCCTCAATGGAGGGAACA       c.540
 G  L  K  F  N  P  L  N  T  N  Q  F  Y  A  S  S  M  E  G  T         p.180

          .         .         .         .         .         .       g.23016
 ACTAGGCTGCAAGACTTTAAAGGCAACATTCTACGAGTTTTTGCCAGCTCAGACACCATC       c.600
 T  R  L  Q  D  F  K  G  N  I  L  R  V  F  A  S  S  D  T  I         p.200

    | 05     .         .         .         .         .         .    g.24689
 AA | CATCTGGTTTTGTAGCCTGGATGTGTCTGCTAGTAGCCGAATGGTGGTCACAGGAGAC    c.660
 N  |  I  W  F  C  S  L  D  V  S  A  S  S  R  M  V  V  T  G  D      p.220

          .         .         .         .   | 06     .         .    g.24833
 AACGTGGGGAACGTGATCCTGCTGAACATGGACGGCAAAGAG | CTTTGGAATCTCAGAATG    c.720
 N  V  G  N  V  I  L  L  N  M  D  G  K  E   | L  W  N  L  R  M      p.240

          .         .         .         .         .         .       g.24893
 CACAAAAAGAAAGTGACGCATGTGGCCCTGAACCCATGCTGTGATTGGTTCCTGGCCACA       c.780
 H  K  K  K  V  T  H  V  A  L  N  P  C  C  D  W  F  L  A  T         p.260

          .         .         .         .         .         .       g.24953
 GCCTCCGTAGATCAAACAGTGAAAATTTGGGACCTGCGCCAGGTTAGAGGGAAAGCCAGC       c.840
 A  S  V  D  Q  T  V  K  I  W  D  L  R  Q  V  R  G  K  A  S         p.280

          .         .         .         . | 07       .         .    g.25348
 TTCCTCTACTCGCTGCCGCACAGGCATCCTGTCAACGCAG | CTTGTTTCAGTCCCGATGGA    c.900
 F  L  Y  S  L  P  H  R  H  P  V  N  A  A |   C  F  S  P  D  G      p.300

          .         .         .         .         .         .       g.25408
 GCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCCGAGTTTACTCTGCTTCCCAGTGG       c.960
 A  R  L  L  T  T  D  Q  K  S  E  I  R  V  Y  S  A  S  Q  W         p.320

          .         .         .         .         .         .       g.25468
 GACTGCCCCCTGGGCCTGATCCCGCACCCTCACCGTCACTTCCAGCACCTCACACCCATC       c.1020
 D  C  P  L  G  L  I  P  H  P  H  R  H  F  Q  H  L  T  P  I         p.340

     | 08    .         .         .         .         .         .    g.27952
 AAG | GCAGCCTGGCATCCTCGCTACAACCTCATTGTTGTGGGCCGATACCCAGATCCTAAT    c.1080
 K   | A  A  W  H  P  R  Y  N  L  I  V  V  G  R  Y  P  D  P  N      p.360

          .         .         .         .         .         .       g.28012
 TTCAAAAGTTGTACCCCTTATGAATTGAGGACGATCGACGTGTTCGATGGAAACTCAGGG       c.1140
 F  K  S  C  T  P  Y  E  L  R  T  I  D  V  F  D  G  N  S  G         p.380

          .         .         .         .         | 09         .    g.28208
 AAGATGATGTGTCAGCTCTATGACCCAGAATCTTCTGGCATCAGTTCG | CTTAATGAATTC    c.1200
 K  M  M  C  Q  L  Y  D  P  E  S  S  G  I  S  S   | L  N  E  F      p.400

          .         .         .     | 10   .         .         .    g.28884
 AATCCCATGGGGGACACGCTGGCCTCTGCAATGG | GTTACCACATTCTCATCTGGAGCCAG    c.1260
 N  P  M  G  D  T  L  A  S  A  M  G |   Y  H  I  L  I  W  S  Q      p.420

          .         .                                               g.28908
 GAGGAAGCCAGGACACGGAAGTGA                                           c.1284
 E  E  A  R  T  R  K  X                                             p.427

          .         .         .         .         .         .       g.28968
 gagacactaaagaaggtgtgggccagacaaggccttggagcccacacatgggatcaagtc       c.*60

          .         .         .         .         .         .       g.29028
 ctgcaagcagaggtggcgatttgttaaagggccaaaagtatccaaggttagggttggagc       c.*120

          .         .         .         .         .         .       g.29088
 aggggtgctgggacctggggcactgtgggactgggacacttttatgttaatgctctggac       c.*180

          .         .         .         .         .         .       g.29148
 ttgcctccagagactgctccagagttggtgacacagctgtcccaagggcccctctgtatc       c.*240

          .         .         .         .         .         .       g.29208
 tagcctggaaccaaggttatcttggaactaaatgacttttctcctctcagtgggtggtag       c.*300

          .         .         .         .         .         .       g.29268
 cagagggatcaagcagttatttgatttgtgctcacttttgatatggccaataaaaccata       c.*360

                                                                    g.29277
 ccgactgag                                                          c.*369

 (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 10^th nucleotide is indicated by a "." above the sequence. The Damage-specific DNA binding protein 2, 48kDa protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th 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.