dehydrogenase/reductase (SDR family) member 4 like 2 (DHRS4L2) - coding DNA reference sequence

(used for variant description)

(last modified February 4, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_198083.3 in the DHRS4L2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_023545.1, covering DHRS4L2 transcript NM_198083.3.

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

 (upstream sequence)
                                                   .                g.23954
                                                   agacgactcc       c.-121

 .         .         .         .         .         .                g.24014
 cagctggccgagggcgggaagggggcaggcagggaagcggcccgcccttcgtcctgcccc       c.-61

 .         .         .         .         .         .                g.24074
 ttcgccctactctgtcacctccgctggaaggagtggaacccagacttgctggtctgatcc       c.-1

          .         .         .         .         .         .       g.24134
 ATGCAGATGGCCAGGCTGCTAGGCCTCTGTGCCTGGGCACGGAAGTCGGTGCGGATGGCC       c.60
 M  Q  M  A  R  L  L  G  L  C  A  W  A  R  K  S  V  R  M  A         p.20

          .         .         .         .         .         .       g.24194
 AGCTCCAGGATGACCCGCCGGGACCCGCTCACAAATAAGGTGGCCCTGGTAACGGCCTCC       c.120
 S  S  R  M  T  R  R  D  P  L  T  N  K  V  A  L  V  T  A  S         p.40

          | 02         .         .         .         .         .    g.25360
 ACCGACGG | GATCGGCTTCGCCATCGCCCGGCGTTTGGCCCAGGACAGGGCCCACGTGGTC    c.180
 T  D  G  |  I  G  F  A  I  A  R  R  L  A  Q  D  R  A  H  V  V      p.60

          .         .         .         .         .         .       g.25420
 GTCAGCAGCCGGAAGCAGCAGAATGTGGACCAGGCGGTGGCCACGCTGCAGGGGGAGGGG       c.240
 V  S  S  R  K  Q  Q  N  V  D  Q  A  V  A  T  L  Q  G  E  G         p.80

          .         .         .         .         .         .       g.25480
 CTGAGCGTGACGGGCACTGTGTGCCATGTGGGGAAGGCGGAGGACCGGGAGCGGCTGGTG       c.300
 L  S  V  T  G  T  V  C  H  V  G  K  A  E  D  R  E  R  L  V         p.100

        | 03 .         .         .         .         .         .    g.30212
 GCCATG | GCTGTGAAGCTTCATGGAGGTATCGATATCCTAGTCTCCAATGCTGCTGTCAAC    c.360
 A  M   | A  V  K  L  H  G  G  I  D  I  L  V  S  N  A  A  V  N      p.120

          .         .         .         .         | 04         .    g.36001
 CCTTTCTTTGGAAGCCTAATGGATGTCACCGAGGAGGTGTGGGACAAG | ACTCTGGACATT    c.420
 P  F  F  G  S  L  M  D  V  T  E  E  V  W  D  K   | T  L  D  I      p.140

          .         .         .         .         .          | 05    g.36160
 AATGTGAAGGCCCCAGCCCTGATGACAAAGGCAGTGGTGCCAGAAATGGAGAAACGAGG | A    c.480
 N  V  K  A  P  A  L  M  T  K  A  V  V  P  E  M  E  K  R  G  |      p.160

          .         .         .         .         .  | 06      .    g.36519
 GGCGGCTCAGTGGTGATCGTGTCTTCCATAGCAGCCTTCAGTCCATCTCCT | GGCTTCAGT    c.540
 G  G  S  V  V  I  V  S  S  I  A  A  F  S  P  S  P   | G  F  S      p.180

          .         .         .         .         .         .       g.36579
 CCTTACAATGTCAGTAAAACAGCCTTGCTGGGCCTCAACAATACCCTGGCCATAGAGCTG       c.600
 P  Y  N  V  S  K  T  A  L  L  G  L  N  N  T  L  A  I  E  L         p.200

          .         .         .         .         .         .       g.36639
 GCCCCAAGGAACATTAGGGTGAACTGCCTGCACCTGGACTTATCAAGACTAGCTTCAGCA       c.660
 A  P  R  N  I  R  V  N  C  L  H  L  D  L  S  R  L  A  S  A         p.220

       | 07  .         .         .                                  g.39518
 GGATG | CTCTGGATGGACAAGGAAAAAGAGGAAAGCATGA                         c.699
 G  C  |  S  G  W  T  R  K  K  R  K  A  X                           p.232

          .         .   | 08     .         .         .         .    g.41071
 aagaaaccctgcggataagaag | gttaggcgagccagaggattgtgctggcatcgtgtctt    c.*60

          .         .         .         .         .         .       g.41131
 tcctgtgctctgaagatgccagctacatcactggggaaacagtggtggtgggtggaggaa       c.*120

          .         .         .         .         .         .       g.41191
 ccccgtcccgcctctgaggaccgggagacagcccacaggccagagttgggctctagctcc       c.*180

          .         .         .         .         .         .       g.41251
 tggtgctgttcctgcattcacccactggcctttcccacctctgctcaccttactgttcac       c.*240

          .         .         .         .         .         .       g.41311
 ctcatcaaatcagttctgccctgtgaaaagatccagccttccctgccgtcaaggtggcgt       c.*300

          .         .         .         .         .         .       g.41371
 cttactcgggattcctgctgttgttgtggccttgggtaaaggcctcccctgagaacacag       c.*360

          .         .         .         .         .         .       g.41431
 gacaggcctgctgacaaggctgagtctaccttggcaaagaccaagatattttttcctggg       c.*420

          .         .         .         .         .         .       g.41491
 ccactggggaatctgaggggtgatgggagagaaggaacctggagtggaaggagcagagtt       c.*480

          .         .         .         .         .         .       g.41551
 gcaaattaacaacttgcaaatgaggtgcaaataaaatgcagatgattgcgcggctttgaa       c.*540

                                                                    g.41556
 tccaa                                                              c.*545

 (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 Dehydrogenase/reductase (SDR family) member 4 like 2 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.