deoxyhypusine synthase (DHPS) - coding DNA reference sequence

(used for variant description)

(last modified February 12, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_001930.3 in the DHPS gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000019.9, covering DHPS transcript NM_001930.3.

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

 (upstream sequence)
                                                                    g.5001
                                                            a       c.-121

 .         .         .         .         .         .                g.5061
 aagcacgttccctacttcctgtgctcttgcggagacgcgcgcgtcggggtttaacgcgtt       c.-61

 .         .         .         .         .         .                g.5121
 tctgggccgccgtaagcccggcctaggggcagctttgactcgagagccggctataggcgc       c.-1

          .         .         .         .         .         .       g.5181
 ATGGAAGGTTCCCTGGAACGGGAGGCGCCAGCGGGGGCGCTGGCCGCCGTGCTAAAGCAC       c.60
 M  E  G  S  L  E  R  E  A  P  A  G  A  L  A  A  V  L  K  H         p.20

          .         .         .         .         .         .       g.5241
 AGCTCGACGTTGCCGCCCGAAAGCACCCAGGTCCGGGGCTACGACTTCAACCGCGGTGTG       c.120
 S  S  T  L  P  P  E  S  T  Q  V  R  G  Y  D  F  N  R  G  V         p.40

          .         .         .         .         .         .       g.5301
 AATTACCGCGCACTGCTGGAGGCCTTCGGCACCACCGGCTTCCAAGCAACCAACTTCGGG       c.180
 N  Y  R  A  L  L  E  A  F  G  T  T  G  F  Q  A  T  N  F  G         p.60

          .         .        | 02.         .         .         .    g.6595
 CGCGCTGTACAGCAAGTCAATGCCATG | ATCGAGAAGAAGCTGGAACCACTGTCACAGGAT    c.240
 R  A  V  Q  Q  V  N  A  M   | I  E  K  K  L  E  P  L  S  Q  D      p.80

          .         .         .         .         .         .       g.6655
 GAAGACCAGCACGCGGACCTGACCCAGAGCCGCCGCCCACTTACCAGCTGCACCATTTTC       c.300
 E  D  Q  H  A  D  L  T  Q  S  R  R  P  L  T  S  C  T  I  F         p.100

          .         .         .         .         .         .       g.6715
 CTGGGATATACATCCAACCTCATCAGTTCAGGCATCCGTGAGACCATTCGCTACCTTGTG       c.360
 L  G  Y  T  S  N  L  I  S  S  G  I  R  E  T  I  R  Y  L  V         p.120

          .   | 03     .         .         .         .         .    g.7013
 CAGCACAACATG | GTGGACGTATTGGTGACCACAGCTGGCGGCGTGGAGGAAGACCTCATC    c.420
 Q  H  N  M   | V  D  V  L  V  T  T  A  G  G  V  E  E  D  L  I      p.140

          .         .         .         .         .         .       g.7073
 AAGTGCCTGGCGCCCACATACTTGGGCGAGTTTAGCCTCAGGGGGAAGGAGCTCCGGGAG       c.480
 K  C  L  A  P  T  Y  L  G  E  F  S  L  R  G  K  E  L  R  E         p.160

          .     | 04   .         .         .         .         .    g.7214
 AACGGGATCAATAG | GATCGGAAACCTGCTGGTGCCCAATGAGAATTACTGCAAGTTTGAG    c.540
 N  G  I  N  R  |  I  G  N  L  L  V  P  N  E  N  Y  C  K  F  E      p.180

          .         .         .         .         .  | 05      .    g.7353
 GACTGGCTGATGCCCATTCTGGACCAGATGGTGATGGAGCAGAACACAGAG | GGTGTAAAG    c.600
 D  W  L  M  P  I  L  D  Q  M  V  M  E  Q  N  T  E   | G  V  K      p.200

          .         .         .         .         .         .       g.7413
 TGGACGCCTTCTAAGATGATCGCCCGGCTGGGCAAGGAGATCAACAACCCAGAGTCCGTG       c.660
 W  T  P  S  K  M  I  A  R  L  G  K  E  I  N  N  P  E  S  V         p.220

          .         | 06         .         .         .         .    g.9533
 TATTACTGGGCCCAGAAG | AACCACATCCCTGTGTTTAGTCCCGCACTTACAGACGGCTCG    c.720
 Y  Y  W  A  Q  K   | N  H  I  P  V  F  S  P  A  L  T  D  G  S      p.240

          .         .         .         .         .         .       g.9593
 CTGGGCGACATGATCTTCTTCCATTCCTACAAGAACCCGGGCCTGGTCCTGGACATCGTT       c.780
 L  G  D  M  I  F  F  H  S  Y  K  N  P  G  L  V  L  D  I  V         p.260

      | 07   .         .         .         .         .         .    g.9732
 GAGG | ACCTGAGGCTCATCAACACACAGGCCATCTTTGCCAAGTGCACTGGGATGATCATT    c.840
 E  D |   L  R  L  I  N  T  Q  A  I  F  A  K  C  T  G  M  I  I      p.280

          .         .         .         .         | 08         .    g.10757
 CTGGGCGGGGGCGTGGTCAAGCACCACATTGCCAATGCCAACCTCATG | CGGAACGGGGCC    c.900
 L  G  G  G  V  V  K  H  H  I  A  N  A  N  L  M   | R  N  G  A      p.300

          .         .         .         .         .         .       g.10817
 GACTACGCTGTTTACATCAACACAGCCCAGGAGTTTGATGGCTCTGACTCAGGTGCCCGA       c.960
 D  Y  A  V  Y  I  N  T  A  Q  E  F  D  G  S  D  S  G  A  R         p.320

          .         .         .         .         .     | 09   .    g.10960
 CCAGACGAGGCTGTCTCCTGGGGCAAGATCCGGGTGGATGCACAGCCCGTCAAG | GTCTAT    c.1020
 P  D  E  A  V  S  W  G  K  I  R  V  D  A  Q  P  V  K   | V  Y      p.340

          .         .         .         .         .         .       g.11020
 GCTGACGCCTCCCTGGTCTTCCCCCTGCTTGTGGCTGAAACCTTTGCCCAGAAGATGGAT       c.1080
 A  D  A  S  L  V  F  P  L  L  V  A  E  T  F  A  Q  K  M  D         p.360

          .         .         .                                     g.11050
 GCCTTCATGCATGAGAAGAACGAGGACTGA                                     c.1110
 A  F  M  H  E  K  N  E  D  X                                       p.369

          .         .         .         .         .         .       g.11110
 gcggctgcggtcccaggaaggtcttaccccctcttctatttattaatttgcagacccagc       c.*60

          .         .         .         .         .         .       g.11170
 ccctcccctactttttggtcagctacgtctctagaataagatggtatctgaagtccttcc       c.*120

                                                                    g.11171
 a                                                                  c.*121

 (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 synthase 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.