deoxyhypusine hydroxylase/monooxygenase (DOHH) - coding DNA reference sequence

(used for variant description)

(last modified August 10, 2022)

This file was created to facilitate the description of sequence variants on transcript NM_001145165.1 in the DOHH gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000019.9, covering DOHH transcript NM_001145165.1.

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

 (upstream sequence)
                               .         .         .                g.5032
                             agccagcccaggcagggcgctgaatcggcaca       c.-421

 .         .         .         .         .         .                g.5092
 aaccagtctcacttcttgtaccgcagtggggaggttggagagaattttttcccatgaaag       c.-361

 .         .         .         .         .         .                g.5152
 ggcatacgttgcccgtccccttccccgaagaacgcactaggaatactgttcctgcgtttg       c.-301

 .         .         .         .         .         .                g.5212
 catgagctgtggcaccagcaccgactcagccttccgggcctccctcatgcacggagcctc       c.-241

 .         .         .         .         .         .                g.5272
 tcactaggtctcacccgcggctgcgttggtgccgtccggcacggtcacgtgggcgagaaa       c.-181

 .         .         .         .         .         .                g.5332
 atggcggcccccagaccgcactgcgggcgtcgcggcaggtgaagcggtggtggcagaggc       c.-121

 .         .         .         .         .        | 02.             g.9066
 gcctgcggttactggccgggccgacgggtcctgagtctccagagctcg | gttcttacatcc    c.-61

 .         .         .         .         .         .                g.9126
 ccgcgtccccaggtttagcctgagcagggttgtggaaggccgggacccattgacagcacg       c.-1

          .         .         .         .         .         .       g.9186
 ATGGTGACGGAGCAGGAGGTGGATGCCATCGGGCAGACGCTGGTGGACCCCAAGCAGCCC       c.60
 M  V  T  E  Q  E  V  D  A  I  G  Q  T  L  V  D  P  K  Q  P         p.20

          .         .         .         .         .         .       g.9246
 CTGCAGGCCCGCTTCCGGGCGCTGTTCACGCTGCGTGGGCTCGGCGGCCCAGGCGCCATT       c.120
 L  Q  A  R  F  R  A  L  F  T  L  R  G  L  G  G  P  G  A  I         p.40

          .         .         .         .         .         .       g.9306
 GCATGGATCAGCCAGGCCTTCGATGACGATTCCGCCCTGCTCAAGCACGAGCTGGCCTAC       c.180
 A  W  I  S  Q  A  F  D  D  D  S  A  L  L  K  H  E  L  A  Y         p.60

          .         .         .         .         .         .       g.9366
 TGCCTGGGCCAGATGCAGGATGCCCGCGCCATCCCCATGCTGGTGGACGTGCTGCAAGAC       c.240
 C  L  G  Q  M  Q  D  A  R  A  I  P  M  L  V  D  V  L  Q  D         p.80

          .         .         .     | 03   .         .         .    g.11862
 ACCCGTCAGGAGCCCATGGTGCGCCATGAGGCAG | GGGAGGCCCTGGGGGCCATCGGGGAC    c.300
 T  R  Q  E  P  M  V  R  H  E  A  G |   E  A  L  G  A  I  G  D      p.100

          .         .         .         .         .  | 04      .    g.13450
 CCGGAAGTTCTGGAGATCCTGAAGCAGTATTCCTCGGACCCCGTCATCGAG | GTGGCCGAG    c.360
 P  E  V  L  E  I  L  K  Q  Y  S  S  D  P  V  I  E   | V  A  E      p.120

          .         .         .         .         .         .       g.13510
 ACCTGCCAGCTGGCCGTGCGCAGGCTGGAGTGGCTGCAGCAGCACGGCGGGGAGCCGGCG       c.420
 T  C  Q  L  A  V  R  R  L  E  W  L  Q  Q  H  G  G  E  P  A         p.140

          .         .         .         .         .         .       g.13570
 GCGGGACCCTACCTCTCCGTGGACCCTGCCCCGCCGGCTGAGGAGCGTGACGTGGGGCGC       c.480
 A  G  P  Y  L  S  V  D  P  A  P  P  A  E  E  R  D  V  G  R         p.160

          .         .         .         .         .         .       g.13630
 CTGCGGGAGGCGCTGCTGGATGAGTCCCGGCCGCTCTTCGAGCGATACCGCGCCATGTTC       c.540
 L  R  E  A  L  L  D  E  S  R  P  L  F  E  R  Y  R  A  M  F         p.180

          .         .         .         .          | 05        .    g.14140
 GCCCTGCGCAACGCGGGAGGCGAGGAGGCCGCCCTGGCGCTGGCCGAGG | GTCTGCACTGT    c.600
 A  L  R  N  A  G  G  E  E  A  A  L  A  L  A  E  G |   L  H  C      p.200

          .         .         .         .         .         .       g.14200
 GGGAGCGCCCTCTTCCGCCACGAGGTCGGCTACGTCCTGGGACAGCTGCAGCACGAGGCG       c.660
 G  S  A  L  F  R  H  E  V  G  Y  V  L  G  Q  L  Q  H  E  A         p.220

          .         .         .         .         .         .       g.14260
 GCGGTGCCCCAGCTGGCGGCCGCCCTGGCCCGATGCACCGAGAACCCCATGGTGCGGCAC       c.720
 A  V  P  Q  L  A  A  A  L  A  R  C  T  E  N  P  M  V  R  H         p.240

          .         .         .         .         .         .       g.14320
 GAGTGCGCGGAGGCCCTGGGCGCCATTGCCCGGCCCGCCTGCCTGGCCGCGCTGCAGGCT       c.780
 E  C  A  E  A  L  G  A  I  A  R  P  A  C  L  A  A  L  Q  A         p.260

          .         .         .         .         .         .       g.14380
 CACGCGGACGACCCAGAGCGCGTGGTGCGTGAGAGCTGCGAGGTGGCTCTGGACATGTAT       c.840
 H  A  D  D  P  E  R  V  V  R  E  S  C  E  V  A  L  D  M  Y         p.280

          .         .         .         .         .         .       g.14440
 GAGCACGAGACCGGGCGGGCCTTCCAGTACGCGGACGGCCTGGAGCAGCTGCGCGGGGCC       c.900
 E  H  E  T  G  R  A  F  Q  Y  A  D  G  L  E  Q  L  R  G  A         p.300

                                                                    g.14449
 CCCTCCTAG                                                          c.909
 P  S  X                                                            p.302

          .         .         .         .         .         .       g.14509
 ggccccaccctcacccggagctcccggaggactcttgagggccgctcctcccccgcagag       c.*60

          .         .         .         .         .         .       g.14569
 ctttggcgtctaaaccgggtgtgtgtaaatcggtgtcatcgcttgtgtcttgctgggcgc       c.*120

          .         .         .         .         .         .       g.14629
 atggttgctgtccccctcctccgtctgggaccgaggagctgccgttgtgctgtgactccc       c.*180

          .         .         .         .         .         .       g.14689
 tgagtcccctgactgctcctcggggcctggcgcagggctgtagcgtggaagtttccaggc       c.*240

          .         .         .         .         .         .       g.14749
 ttggggtgggactctgcgggaggctctgggatgcccggctcaggacaggggaggattgcg       c.*300

          .         .         .         .         .         .       g.14809
 agggaagccaggggaggatcgcgagggaagccaggggaggatcgcgagggaagccagggg       c.*360

          .         .         .         .         .         .       g.14869
 aggatcgcgagggaagccaggggaggatcgcgagggaagccaagggaggatcgcgagggg       c.*420

          .         .         .         .         .         .       g.14929
 agccaggggaggatcgcgagggaagccaggggcagagctggggctctgggaagaggctga       c.*480

          .         .         .         .         .         .       g.14989
 cgttatggtggcttcagcttcactaggaatgggacacagggtctgggggcctctgactcc       c.*540

          .         .         .         .         .         .       g.15049
 cccaccccgaggcctgggtagggacagggtggtggtccctgagtgggtcaggtagggcac       c.*600

          .         .         .         .         .         .       g.15109
 aggggccagggagggacaagcagacctcagagcgctgcccagatggaatattaaattatt       c.*660

          .                                                         g.15120
 tttgccaagca                                                        c.*671

 (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 Deoxyhypusine hydroxylase/monooxygenase 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.