dehydrodolichyl diphosphate synthase (DHDDS) - coding DNA reference sequence

(used for variant description)

(last modified November 13, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_024887.3 in the DHDDS gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_029786.1, covering DHDDS transcript NM_024887.3.

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

 (upstream sequence)
                               .         .         .                g.5030
                               gcagcgcccaaagatgacgtgttctgccag       c.-121

 .         .         .         .         .         .                g.5090
 cgccacgtcatgaggaagtgccggcccactgaagccgtggggacgcgcccagcggagcta       c.-61

 .     | 02   .         .         .         .         .             g.5664
 atcag | attacctggctggtgtttgcttgttctggagtgatcttctgactggaaaagaact    c.-1

          .         .         .         .         .         .       g.5724
 ATGTCATGGATCAAGGAAGGAGAGCTGTCACTTTGGGAGCGGTTCTGTGCCAACATCATA       c.60
 M  S  W  I  K  E  G  E  L  S  L  W  E  R  F  C  A  N  I  I         p.20

     | 03    .         .         .         .         .         .    g.10943
 AAG | GCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACCGTCGCTATGCC    c.120
 K   | A  G  P  M  P  K  H  I  A  F  I  M  D  G  N  R  R  Y  A      p.40

          .         .         .         .         .         .       g.11003
 AAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAG       c.180
 K  K  C  Q  V  E  R  Q  E  G  H  S  Q  G  F  N  K  L  A  E         p.60

  | 04       .         .         .         .         .         .    g.15509
  | ACTCTGCGGTGGTGTTTGAACCTGGGCATCCTAGAGGTGACAGTCTACGCATTCAGCATT    c.240
  | T  L  R  W  C  L  N  L  G  I  L  E  V  T  V  Y  A  F  S  I      p.80

          .         .         .         .         .         .       g.15569
 GAGAACTTCAAACGCTCCAAGAGTGAGGTAGACGGGCTTATGGATCTGGCCCGGCAGAAG       c.300
 E  N  F  K  R  S  K  S  E  V  D  G  L  M  D  L  A  R  Q  K         p.100

          .         .    | 05    .         .         .         .    g.19071
 TTCAGCCGCTTGATGGAAGAAAA | GGAGAAACTGCAGAAGCATGGGGTGTGTATCCGGGTC    c.360
 F  S  R  L  M  E  E  K  |  E  K  L  Q  K  H  G  V  C  I  R  V      p.120

          .         .         .         .         .         .       g.19131
 CTGGGCGATCTGCACTTGTTGCCCTTGGATCTCCAGGAGCTGATTGCACAAGCTGTACAG       c.420
 L  G  D  L  H  L  L  P  L  D  L  Q  E  L  I  A  Q  A  V  Q         p.140

          .         . | 06       .         .         .         .    g.20317
 GCCACGAAGAACTACAACAA | GTGTTTCCTGAATGTCTGTTTTGCATACACATCCCGTCAT    c.480
 A  T  K  N  Y  N  K  |  C  F  L  N  V  C  F  A  Y  T  S  R  H      p.160

          .         .         .         .         .         .       g.20377
 GAGATCAGCAATGCTGTGAGAGAGATGGCCTGGGGGGTGGAGCAAGGCCTGTTGGATCCC       c.540
 E  I  S  N  A  V  R  E  M  A  W  G  V  E  Q  G  L  L  D  P         p.180

    | 07     .         .         .         .         .         .    g.30567
 AG | TGATATCTCTGAGTCTCTGCTTGATAAGTGCCTCTATACCAACCGCTCTCCTCATCCT    c.600
 S  |  D  I  S  E  S  L  L  D  K  C  L  Y  T  N  R  S  P  H  P      p.200

          .         .         .         .         .        | 08.    g.32758
 GACATCTTGATACGGACTTCTGGAGAAGTGCGGCTGAGTGACTTCTTGCTATGGCAG | ACC    c.660
 D  I  L  I  R  T  S  G  E  V  R  L  S  D  F  L  L  W  Q   | T      p.220

          .         .         .         .         .         .       g.32818
 TCTCACTCCTGCCTGGTGTTCCAACCCGTTCTGTGGCCAGAGTATACATTTTGGAACCTC       c.720
 S  H  S  C  L  V  F  Q  P  V  L  W  P  E  Y  T  F  W  N  L         p.240

          .         .         .         .      | 09  .         .    g.41625
 TTCGAGGCCATCCTGCAGTTCCAGATGAACCATAGCGTGCTTCAG | CAGAAGGCCCGAGAC    c.780
 F  E  A  I  L  Q  F  Q  M  N  H  S  V  L  Q   | Q  K  A  R  D      p.260

          .         .         .         .         .         .       g.41685
 ATGTATGCAGAGGAGCGGAAGAGGCAGCAGCTGGAGAGGGACCAGGCTACAGTGACAGAG       c.840
 M  Y  A  E  E  R  K  R  Q  Q  L  E  R  D  Q  A  T  V  T  E         p.280

          .         .         .         .         .         .       g.41745
 CAGCTGCTGCGAGAGGGGCTCCAAGCCAGTGGGGACGCCCAGCTCCGAAGGACACGCTTG       c.900
 Q  L  L  R  E  G  L  Q  A  S  G  D  A  Q  L  R  R  T  R  L         p.300

          .         .         .         .         .         .       g.41805
 CACAAACTCTCGGCCAGACGGGAAGAGCGAGTCCAAGGCTTCCTGCAGGCCTTGGAACTC       c.960
 H  K  L  S  A  R  R  E  E  R  V  Q  G  F  L  Q  A  L  E  L         p.320

          .         .         .         .                           g.41850
 AAGCGAGCTGACTGGCTGGCCCGTCTGGGCACTGCATCAGCCTGA                      c.1005
 K  R  A  D  W  L  A  R  L  G  T  A  S  A  X                        p.334

          .         .         .         .         .         .       g.41910
 atgaggctggccacctgccactttgccctgccctctgcctccagggctccactccccttc       c.*60

          .         .         .         .         .         .       g.41970
 cttttcttggtgaaaggcacctcctttcctgataatgaatggtgttccctttgcttggct       c.*120

          .         .         .         .         .         .       g.42030
 ggggagccccccaggccaggtttgctggccatagatacctttgggctgcctgggacaggc       c.*180

          .         .         .         .         .         .       g.42090
 tcctgaggaggattgagggtgaaagtctcccacgagtacactaaacctaggtctggtcac       c.*240

          .         .         .         .         .         .       g.42150
 caatagggtttggagagcaaagggccacaactcatcagctgcctgtctcttagatgcact       c.*300

          .         .         .         .         .         .       g.42210
 ttctttttccaccagcacatccttcaacacacagaatttcagggaagagttctccccaaa       c.*360

          .         .         .         .         .         .       g.42270
 accctagctctttacccttccattttagccttccacccagcttccacaaaagatttggct       c.*420

          .         .         .         .         .         .       g.42330
 ctaccttggatctgctagtaaataactaataggcaggcagttatttgggtaaggaaaaaa       c.*480

          .         .         .         .         .         .       g.42390
 ggggtgggagagacagaaaatttgcccatctgctgctcctcccccttggctctccacctg       c.*540

          .         .         .         .         .         .       g.42450
 ggatttgctattgaatctctaccctctcccaccacacagtactgattgctcactgaaaga       c.*600

          .         .         .         .         .         .       g.42510
 ctcagcacccccaatggtgcgcggaagccaggcgggcgattacaatccaattacctattg       c.*660

          .         .         .         .         .         .       g.42570
 tcgactcagcccacacaagcttttctcctcctcttgcagggcatggggccaggctccact       c.*720

          .         .         .         .         .         .       g.42630
 cccaaatgagactggccccctccatggttcagggtaacagaagggcctgtaggccctggt       c.*780

          .         .         .         .         .         .       g.42690
 gaactgaatccagcacaggcctcccctgtaacacaacaggactgagcagaaccaaacact       c.*840

          .         .         .         .         .         .       g.42750
 tcttccaactgactctgctccctgccctcaccatctcaaactctgattcccactccactc       c.*900

          .         .         .         .         .         .       g.42810
 ttcgaggtttctctcagctttttgacctggctccctaagtaggccctagatgatttattc       c.*960

          .         .         .         .         .         .       g.42870
 ttggcatggcaaagcttgttctaggtcctctgcttgtgagggtcaaagctgtgtcctttc       c.*1020

          .         .         .         .         .         .       g.42930
 ccttacctccctctgccaggacttgctgcagagctgctgagaggattagtgcctttgaag       c.*1080

          .         .         .         .         .         .       g.42990
 agctgtctgcctgagcaactctatttcaggtgccccacaccggcaagtaccagccagcaa       c.*1140

          .         .         .         .         .         .       g.43050
 caccaaccaaatgctactctctttaaagtccattttccttcttctttttttttttttttt       c.*1200

          .         .         .         .         .         .       g.43110
 tggagacagcatctcaccctgtcctggctggtctcgaactcctgacctcaggtgatccgc       c.*1260

          .         .         .         .         .         .       g.43170
 cggcctcaccctcccaaagtgctgggattacaggcatgagccaccatgccagacttccca       c.*1320

          .         .         .         .         .         .       g.43230
 ttttactttctgcaagctgtttccctagcagctccctctaggggagaggtgaaatcttgc       c.*1380

          .         .         .         .         .         .       g.43290
 aagttgtagcaagagcacacaggaaacccctaactttcctataccccacccgcctcttcc       c.*1440

          .         .         .         .         .         .       g.43350
 cctttctgtcccgggatacctggcggcaagagacttcttggctattgtccatgctcccag       c.*1500

          .         .         .         .         .         .       g.43410
 aatcaagcataaatgccagacacggcgattgagaagccaatcagtgaaccctttggcaaa       c.*1560

          .         .         .         .         .         .       g.43470
 gcccccatccacacctggcactcccctctaccaatccctggcacagggttcctggagagc       c.*1620

          .         .         .         .         .         .       g.43530
 aggtgctgtacattttacagctttacaatggggctgttgacagccataattagggaggca       c.*1680

          .         .         .         .         .         .       g.43590
 tgaattatgcggctataatgcagagccctacaattaaggcgggaatgaggggctggaggc       c.*1740

          .         .         .         .         .         .       g.43650
 agcaaacggaatctgccctatgagcgtggctgttgagtcctgtctcctgggtctgacttt       c.*1800

          .         .         .         .         .         .       g.43710
 ccgtaatatgattggggtacagtagaggtgattaatggggctggcatctctctttggcct       c.*1860

          .         .         .         .         .         .       g.43770
 gaggttctgtattctgggaaaggtacacagggtggagtagggagaagctgccccaggagg       c.*1920

          .         .         .         .         .         .       g.43830
 cgatgtagtggtggaaagaagaggcagagaggtcgtcgtcgtcgcccagcagcaagggct       c.*1980

          .         .         .         .         .         .       g.43890
 gcaaaatagtagaactcgtggttgctttggacaggtgtgatttgtgcaagccaggttcaa       c.*2040

          .         .         .         .         .         .       g.43950
 cccttgcctcaagaaatcagatgggaccaatttagtgtccttccacctgtgagccaagcc       c.*2100

          .         .         .         .         .         .       g.44010
 cccatttgaggacatctatcgtattcttgtgtgctgggtctcaaatagaatttttaaaga       c.*2160

          .                                                         g.44025
 ttcttagatgtaaaa                                                    c.*2175

 (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 Dehydrodolichyl diphosphate 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.