4-hydroxyphenylpyruvate dioxygenase-like (HPDL) - coding DNA reference sequence

(used for variant description)

(last modified October 23, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_032756.2 in the HPDL gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000001.10, covering HPDL transcript NM_032756.2.

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

 (upstream sequence)
                               .         .         .                g.5036
                         gcacaggcaccgcgtggttctcacaaccagcagctc       c.-241

 .         .         .         .         .         .                g.5096
 ggctcactgagacccggtggtccagacgctgctcctggctggggtggcgctgcagggaga       c.-181

 .         .         .         .         .         .                g.5156
 accgcgagctctcaggggtcggcgggtgacttctttccggaagaaagcgaggaacgcgct       c.-121

 .         .         .         .         .         .                g.5216
 ctgcggggtgagccggactccccaactccggacgatcagcccaggactgagagccccgaa       c.-61

 .         .         .         .         .         .                g.5276
 gtccccaaccacaagtaagcggccccagaaggacaagtctaggtcgccgtccagagcgcc       c.-1

          .         .         .         .         .         .       g.5336
 ATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCC       c.60
 M  A  A  P  A  L  R  L  C  H  I  A  F  H  V  P  A  G  Q  P         p.20

          .         .         .         .         .         .       g.5396
 CTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGAC       c.120
 L  A  R  N  L  Q  R  L  F  G  F  Q  P  L  A  S  R  E  V  D         p.40

          .         .         .         .         .         .       g.5456
 GGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCA       c.180
 G  W  R  Q  L  A  L  R  S  G  D  A  V  F  L  V  N  E  G  A         p.60

          .         .         .         .         .         .       g.5516
 GGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAAC       c.240
 G  S  G  E  P  L  Y  G  L  D  P  R  H  A  V  P  S  A  T  N         p.80

          .         .         .         .         .         .       g.5576
 CTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGC       c.300
 L  C  F  D  V  A  D  A  G  A  A  T  R  E  L  A  A  L  G  C         p.100

          .         .         .         .         .         .       g.5636
 AGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTG       c.360
 S  V  P  V  P  P  V  R  V  R  D  A  Q  G  A  A  T  Y  A  V         p.120

          .         .         .         .         .         .       g.5696
 GTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGA       c.420
 V  S  S  P  A  G  I  L  S  L  T  L  L  E  R  A  G  Y  R  G         p.140

          .         .         .         .         .         .       g.5756
 CCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGC       c.480
 P  F  L  P  G  F  R  P  V  S  S  A  P  G  P  G  W  V  S  R         p.160

          .         .         .         .         .         .       g.5816
 GTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTC       c.540
 V  D  H  L  T  L  A  C  T  P  G  S  S  P  T  L  L  R  W  F         p.180

          .         .         .         .         .         .       g.5876
 CACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGC       c.600
 H  D  C  L  G  F  C  H  L  P  L  S  P  G  E  D  P  E  L  G         p.200

          .         .         .         .         .         .       g.5936
 CTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAG       c.660
 L  E  M  T  A  G  F  G  L  G  G  L  R  L  T  A  L  Q  A  Q         p.220

          .         .         .         .         .         .       g.5996
 CCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGA       c.720
 P  G  S  I  V  P  T  L  V  L  A  E  S  L  P  G  A  T  T  R         p.240

          .         .         .         .         .         .       g.6056
 CAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGG       c.780
 Q  D  Q  V  E  Q  F  L  A  R  H  K  G  P  G  L  Q  H  V  G         p.260

          .         .         .         .         .         .       g.6116
 CTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTC       c.840
 L  Y  T  P  N  I  V  E  A  T  E  G  V  A  T  A  G  G  Q  F         p.280

          .         .         .         .         .         .       g.6176
 CTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCA       c.900
 L  A  P  P  G  A  Y  Y  Q  Q  P  G  K  E  R  Q  I  R  A  A         p.300

          .         .         .         .         .         .       g.6236
 GGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAG       c.960
 G  H  E  P  H  L  L  A  R  Q  G  I  L  L  D  G  D  K  G  K         p.320

          .         .         .         .         .         .       g.6296
 TTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTG       c.1020
 F  L  L  Q  V  F  T  K  S  L  F  T  E  D  T  F  F  L  E  L         p.340

          .         .         .         .         .         .       g.6356
 ATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCC       c.1080
 I  Q  R  Q  G  A  T  G  F  G  Q  G  N  I  R  A  L  W  Q  S         p.360

          .         .         .                                     g.6392
 GTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAA                               c.1116
 V  Q  E  Q  S  A  R  S  Q  E  A  X                                 p.371

          .         .         .         .         .         .       g.6452
 ggatgcccagggctgggtgcagccagctgtcctgcagctctggggagaccagcacagaac       c.*60

          .         .         .         .         .         .       g.6512
 tgaggaacatctgcaggaggcccaactagtgaaaggctttgcctccggggggcaggtgtg       c.*120

          .         .         .         .         .         .       g.6572
 acttccatttcatcagtgcctgccagaagctgtgtctctcattgggctccaaagaggtgg       c.*180

          .         .         .         .         .         .       g.6632
 gattttttaaaactaaaacatttcttatatacagtctataataaatatgtaagatacaaa       c.*240

          .         .         .         .         .         .       g.6692
 gaacaataaaagaattacacactaggaaatagaacataaccaatactttcgagtcctccc       c.*300

          .         .         .         .         .         .       g.6752
 tgtgtcccgctgtgattctatttcctcccacccactcctcaaatcctgtcattattagcc       c.*360

          .         .         .         .         .                 g.6803
 ctttgcttttctgtattgtttcactccgtatgtaacataaccctaaataaa                c.*411

 (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 4-hydroxyphenylpyruvate dioxygenase-like 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.