4-hydroxyphenylpyruvate dioxygenase (HPD) - coding DNA reference sequence

(used for variant description)

(last modified July 12, 2024)

This file was created to facilitate the description of sequence variants on transcript NM_002150.2 in the HPD gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000012.11, covering HPD transcript NM_002150.2.

Please note that introns are available by clicking on the exon numbers above the sequence. 
 (upstream sequence)
                     .         .         .         .                g.34788
                     aggcctctagtcccagtaggaggtttgactaagatcaatc       c.-1

     | 02    .         .         . | 03       .         .         . g.35822
 ATG | ACGACTTACAGTGACAAAGGGGCAAAG | CCTGAGAGAGGCCGATTCCTCCACTTCCAC c.60
 M   | T  T  Y  S  D  K  G  A  K   | P  E  R  G  R  F  L  H  F  H   p.20

          .         .         .    | 04    .         .         .    g.36206
 TCTGTGACCTTCTGGGTTGGCAACGCCAAGCAG | GCCACGTCATTCTACTGCAGCAAGATG    c.120
 S  V  T  F  W  V  G  N  A  K  Q   | A  T  S  F  Y  C  S  K  M      p.40

          .         .         .         .         .         .       g.36266
 GGCTTTGAACCTCTAGCCTACAGGGGCCTGGAGACCGGTTCCCGGGAGGTGGTCAGCCAT       c.180
 G  F  E  P  L  A  Y  R  G  L  E  T  G  S  R  E  V  V  S  H         p.60

          .         | 05         .         .         .         .    g.37028
 GTAATCAAACAAGGGAAG | ATTGTGTTTGTCCTCTCCTCAGCGCTCAACCCCTGGAACAAA    c.240
 V  I  K  Q  G  K   | I  V  F  V  L  S  S  A  L  N  P  W  N  K      p.80

   | 06      .         .         .         .         .         .    g.37264
 G | AGATGGGCGATCACCTGGTGAAACACGGTGACGGAGTGAAGGACATTGCGTTCGAGGTG    c.300
 E |   M  G  D  H  L  V  K  H  G  D  G  V  K  D  I  A  F  E  V      p.100

          .         .     | 07   .         .         .         .    g.38855
 GAAGATTGTGACTACATCGTGCAG | AAAGCACGGGAACGGGGCGCCAAAATCATGCGGGAG    c.360
 E  D  C  D  Y  I  V  Q   | K  A  R  E  R  G  A  K  I  M  R  E      p.120

          .         .         .         .         .     | 08   .    g.43827
 CCCTGGGTAGAGCAAGACAAGTTTGGGAAGGTGAAGTTTGCTGTGCTGCAGACG | TATGGG    c.420
 P  W  V  E  Q  D  K  F  G  K  V  K  F  A  V  L  Q  T   | Y  G      p.140

          .         .         .         .         .         .       g.43887
 GACACCACACACACCCTGGTGGAGAAGATGAACTACATCGGCCAATTCTTGCCTGGATAT       c.480
 D  T  T  H  T  L  V  E  K  M  N  Y  I  G  Q  F  L  P  G  Y         p.160

          .         .         .         | 09         .         .    g.44557
 GAGGCCCCAGCGTTCATGGACCCCCTACTTCCTAAACT | GCCCAAATGCAGTCTGGAGATG    c.540
 E  A  P  A  F  M  D  P  L  L  P  K  L  |  P  K  C  S  L  E  M      p.180

          .         .         .         .         .       | 10 .    g.46401
 ATCGACCACATTGTGGGAAACCAGCCTGATCAGGAGATGGTGTCCGCCTCCGAATG | GTAC    c.600
 I  D  H  I  V  G  N  Q  P  D  Q  E  M  V  S  A  S  E  W  |  Y      p.200

          .         .         .         .         .         .       g.46461
 CTGAAAAACCTGCAGTTCCACCGCTTCTGGTCCGTGGATGACACGCAGGTGCACACGGAA       c.660
 L  K  N  L  Q  F  H  R  F  W  S  V  D  D  T  Q  V  H  T  E         p.220

          .         .         .         .         .         .       g.46521
 TATAGCTCTCTGCGATCCATTGTGGTGGCCAACTATGAAGAGTCCATCAAGATGCCCATC       c.720
 Y  S  S  L  R  S  I  V  V  A  N  Y  E  E  S  I  K  M  P  I         p.240

          .         .         .          | 11        .         .    g.46699
 AATGAGCCAGCGCCTGGCAAGAAGAAGTCCCAGATCCAG | GAATATGTGGACTATAACGGG    c.780
 N  E  P  A  P  G  K  K  K  S  Q  I  Q   | E  Y  V  D  Y  N  G      p.260

          .         .         .         .         .  | 12      .    g.49788
 GGCGCTGGGGTCCAGCACATCGCTCTCAAGACCGAAGACATCATCACAGCG | ATTCGCCAC    c.840
 G  A  G  V  Q  H  I  A  L  K  T  E  D  I  I  T  A   | I  R  H      p.280

          .         .         .         .         .         .       g.49848
 TTGAGAGAGAGAGGCCTGGAGTTCTTATCTGTTCCCTCCACGTACTACAAACAACTGCGG       c.900
 L  R  E  R  G  L  E  F  L  S  V  P  S  T  Y  Y  K  Q  L  R         p.300

          .         .         .         .         .     | 13   .    g.53569
 GAGAAGCTGAAGACGGCCAAGATCAAGGTGAAGGAGAACATTGATGCCCTGGAG | GAGCTG    c.960
 E  K  L  K  T  A  K  I  K  V  K  E  N  I  D  A  L  E   | E  L      p.320

          .         .         .         .         .         .       g.53629
 AAAATCCTGGTGGACTACGACGAGAAAGGCTACCTCCTGCAGATCTTCACCAAACCGGTG       c.1020
 K  I  L  V  D  Y  D  E  K  G  Y  L  L  Q  I  F  T  K  P  V         p.340

          .         .         .         .         .  | 14      .    g.53782
 CAGGACCGGCCCACGCTCTTCCTGGAAGTCATCCAGCGCCACAACCACCAG | GGTTTTGGA    c.1080
 Q  D  R  P  T  L  F  L  E  V  I  Q  R  H  N  H  Q   | G  F  G      p.360

          .         .         .         .         .         .       g.53842
 GCCGGCAACTTCAACTCACTGTTCAAGGCTTTCGAGGAGGAGCAGAACCTGCGGGGTAAC       c.1140
 A  G  N  F  N  S  L  F  K  A  F  E  E  E  Q  N  L  R  G  N         p.380

          .         .         .         .                           g.53884
 CTCACCAACATGGAGACCAATGGGGTGGTGCCCGGCATGTAA                         c.1182
 L  T  N  M  E  T  N  G  V  V  P  G  M  X                           p.393

          .         .         .         .         .         .       g.53944
 gccccgcccaccccacggaggccacagccacacagccacgccccctgattctggaactcg       c.*60

          .         .         .         .         .         .       g.54004
 cccaacttccctactggctgctccccttgggtcccgcccaccagcggactcggcccccaa       c.*120

          .         .         .         .         .         .       g.54064
 ggctccgcccacactgaccacgcccctcggcggggccgccctctgctccagccctcccga       c.*180

          .         .                                               g.54085
 ttaaagcgtgccccggtccaa                                              c.*201

 (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 4-hydroxyphenylpyruvate 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 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.

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