3-hydroxyanthranilate 3,4-dioxygenase (HAAO) - coding DNA reference sequence

(used for variant description)

(last modified January 6, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_012205.2 in the HAAO gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000002.11, covering HAAO transcript NM_012205.2.

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

 (upstream sequence)
                                                   .                g.5015
                                              aaaaaggcggctggg       c.-61

 .         .         .         .         .         .                g.5075
 cggagctgcgggcctccgacggcgggaggacagcgctgcgaggaggcgcccgggacagtc       c.-1

          .         .         .         .         .         .       g.5135
 ATGGAGCGCCGCCTGGGAGTGAGGGCCTGGGTGAAGGAGAACCGGGGCTCCTTCCAGCCC       c.60
 M  E  R  R  L  G  V  R  A  W  V  K  E  N  R  G  S  F  Q  P         p.20

          .         . | 02       .         .         .         .    g.9044
 CCGGTCTGCAACAAGCTCAT | GCACCAGGAGCAGCTCAAAGTCATGTTCATCGGAGGCCCC    c.120
 P  V  C  N  K  L  M  |  H  Q  E  Q  L  K  V  M  F  I  G  G  P      p.40

          .         .         .          | 03        .         .    g.13765
 AACACCAGGAAGGACTATCACATCGAAGAGGGTGAAGAG | GTATTTTACCAGCTGGAGGGA    c.180
 N  T  R  K  D  Y  H  I  E  E  G  E  E   | V  F  Y  Q  L  E  G      p.60

          .         .         .         .         .         .       g.13825
 GACATGGTTCTCCGAGTCCTGGAGCAAGGGAAACACCGGGATGTGGTCATTCGGCAGGGA       c.240
 D  M  V  L  R  V  L  E  Q  G  K  H  R  D  V  V  I  R  Q  G         p.80

     | 04    .         .         .         .         .         .    g.14248
 GAG | ATATTCCTCCTGCCTGCCAGGGTGCCCCACTCACCACAGAGGTTTGCCAACACCGTG    c.300
 E   | I  F  L  L  P  A  R  V  P  H  S  P  Q  R  F  A  N  T  V      p.100

          .         .         .         .         . | 05       .    g.27039
 GGGCTGGTGGTTGAGCGAAGGCGGCTGGAGACCGAGCTAGATGGGCTCAG | GTACTATGTG    c.360
 G  L  V  V  E  R  R  R  L  E  T  E  L  D  G  L  R  |  Y  Y  V      p.120

          .         .         .         .         .         .       g.27099
 GGCGACACCATGGACGTTCTGTTTGAGAAGTGGTTCTACTGCAAGGACCTCGGCACGCAG       c.420
 G  D  T  M  D  V  L  F  E  K  W  F  Y  C  K  D  L  G  T  Q         p.140

          .         . | 06       .         .         .         .    g.27465
 TTGGCCCCCATCATCCAGGA | GTTCTTCAGCTCTGAGCAGTACAGAACAGGAAAGCCCATC    c.480
 L  A  P  I  I  Q  E  |  F  F  S  S  E  Q  Y  R  T  G  K  P  I      p.160

      | 07   .         .         .         .         .         .    g.27809
 CCTG | ACCAGCTGCTCAAGGAGCCACCATTCCCTCTGAGCACACGATCCATCATGGAGCCC    c.540
 P  D |   Q  L  L  K  E  P  P  F  P  L  S  T  R  S  I  M  E  P      p.180

          .         .         .         .         .         .       g.27869
 ATGTCCCTGGATGCCTGGCTGGACAGCCACCACAGGGAGCTGCAGGCAGGCACACCACTC       c.600
 M  S  L  D  A  W  L  D  S  H  H  R  E  L  Q  A  G  T  P  L         p.200

          .         .         . | 08       .         .         .    g.29713
 AGCCTGTTTGGGGACACCTATGAGACCCAG | GTGATCGCCTATGGGCAAGGCAGCAGCGAA    c.660
 S  L  F  G  D  T  Y  E  T  Q   | V  I  A  Y  G  Q  G  S  S  E      p.220

          .         .         .          | 09        .         .    g.29955
 GGCCTGAGACAGAATGTGGACGTGTGGCTGTGGCAGCTG | GAGGGCTCCTCGGTGGTGACA    c.720
 G  L  R  Q  N  V  D  V  W  L  W  Q  L   | E  G  S  S  V  V  T      p.240

          .         .         .         .         .         .       g.30015
 ATGGGGGGACGGCGCCTGAGCCTGGCCCCTGATGACAGCCTCCTGGTGCTAGCTGGGACC       c.780
 M  G  G  R  R  L  S  L  A  P  D  D  S  L  L  V  L  A  G  T         p.260

    | 10     .         .         .         .         .         .    g.30154
 TC | GTATGCCTGGGAGCGAACACAAGGCTCTGTGGCCCTGTCTGTGACCCAGGACCCTGCC    c.840
 S  |  Y  A  W  E  R  T  Q  G  S  V  A  L  S  V  T  Q  D  P  A      p.280

          .         .                                               g.30175
 TGCAAGAAGCCCCTGGGGTGA                                              c.861
 C  K  K  P  L  G  X                                                p.286

          .         .         .         .         .         .       g.30235
 ccctcttgccatggcctgaagcagccacaggtgtgccaagcaccctcgagtgccatccct       c.*60

          .         .         .         .         .         .       g.30295
 gccaaacaactctcccagcccccactacctctctgtgtactgccgctgtgtcccccacag       c.*120

          .         .         .         .         .         .       g.30355
 acctgcacattgttgtcacccaccctcctgcccttctcagcccagatgccatgcccctgg       c.*180

          .         .         .         .         .         .       g.30415
 gcgggcagcagctccccatcttctctggcagactcagcccactgccttgccagtcttgcc       c.*240

          .         .         .         .         .         .       g.30475
 aggtggtctacccccggccccgctcctgcccattcctctgtccctgcagactcagtgcag       c.*300

          .         .         .         .                           g.30523
 cacttccacaccaagaaggccctcaataaaggcttcctgaggaacgca                   c.*348

 (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 3-hydroxyanthranilate 3,4-dioxygenase 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.