hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3) - coding DNA reference sequence

(used for variant description)

(last modified June 30, 2023)

This file was created to facilitate the description of sequence variants on transcript NM_000197.1 in the HSD17B3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000009.11, covering HSD17B3 transcript NM_000197.1.

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

 (upstream sequence)
                     .         .         .         .                g.5048
             tacacagagagccacggccagggctgaaacagtctgttgagtgcagcc       c.-1

          .         .         .         .         .         .       g.5108
 ATGGGGGACGTCCTGGAACAGTTCTTCATCCTCACAGGGCTGCTGGTGTGCCTGGCCTGC       c.60
 M  G  D  V  L  E  Q  F  F  I  L  T  G  L  L  V  C  L  A  C         p.20

          .         .         .         .         .         .       g.5168
 CTGGCGAAGTGCGTGAGATTCTCCAGATGTGTTTTACTGAACTACTGGAAAGTTTTGCCA       c.120
 L  A  K  C  V  R  F  S  R  C  V  L  L  N  Y  W  K  V  L  P         p.40

          .         .         .     | 02   .         .         .    g.8716
 AAGTCTTTCTTGCGGTCAATGGGACAGTGGGCAG | TGATCACTGGAGCAGGCGATGGAATT    c.180
 K  S  F  L  R  S  M  G  Q  W  A  V |   I  T  G  A  G  D  G  I      p.60

          .         .  | 03      .         .         .         .    g.52248
 GGGAAAGCGTACTCGTTCGAG | CTAGCAAAACGTGGACTCAATGTTGTCCTTATTAGCCGG    c.240
 G  K  A  Y  S  F  E   | L  A  K  R  G  L  N  V  V  L  I  S  R      p.80

          .         .         .        | 04.         .         .    g.54265
 ACGCTGGAAAAACTAGAGGCCATTGCCACAGAGATCG | AGCGGACTACAGGGAGGAGTGTG    c.300
 T  L  E  K  L  E  A  I  A  T  E  I  E |   R  T  T  G  R  S  V      p.100

          .         .         .         .         .         .       g.54325
 AAGATTATACAAGCAGATTTTACAAAAGATGACATCTACGAGCATATTAAAGAAAAACTT       c.360
 K  I  I  Q  A  D  F  T  K  D  D  I  Y  E  H  I  K  E  K  L         p.120

          .         .      | 05  .         .         .         .    g.55702
 GCAGGCTTAGAAATTGGAATTTTAG | TCAACAATGTCGGAATGCTTCCAAACCTTCTCCCA    c.420
 A  G  L  E  I  G  I  L  V |   N  N  V  G  M  L  P  N  L  L  P      p.140

          .         .         .    | 06    .         .         .    g.57393
 AGCCATTTCCTGAACGCACCGGATGAAATCCAG | AGCCTCATCCATTGTAACATCACCTCC    c.480
 S  H  F  L  N  A  P  D  E  I  Q   | S  L  I  H  C  N  I  T  S      p.160

           | 07        .         .         .     | 08   .         . g.61742
 GTAGTCAAG | ATGACACAGCTAATTCTGAAACATATGGAATCAAG | GCAGAAAGGTCTCATC c.540
 V  V  K   | M  T  Q  L  I  L  K  H  M  E  S  R  |  Q  K  G  L  I   p.180

          .         .         .         .         .         .       g.61802
 CTGAACATTTCTTCTGGGATAGCCCTGTTTCCTTGGCCTCTCTACTCCATGTACTCAGCT       c.600
 L  N  I  S  S  G  I  A  L  F  P  W  P  L  Y  S  M  Y  S  A         p.200

        | 09 .         .         .         .         .         .    g.62812
 TCCAAG | GCGTTTGTGTGCGCATTTTCCAAGGCCCTGCAAGAGGAATATAAAGCAAAAGAA    c.660
 S  K   | A  F  V  C  A  F  S  K  A  L  Q  E  E  Y  K  A  K  E      p.220

          .   | 10     .         .         .         .         .    g.66293
 GTCATCATCCAG | GTGCTGACCCCATATGCTGTCTCGACTGCAATGACAAAGTATCTAAAT    c.720
 V  I  I  Q   | V  L  T  P  Y  A  V  S  T  A  M  T  K  Y  L  N      p.240

          .         .         .         .         .         .       g.66353
 ACAAATGTGATAACCAAGACTGCTGATGAGTTTGTCAAAGAGTCATTGAATTATGTCACA       c.780
 T  N  V  I  T  K  T  A  D  E  F  V  K  E  S  L  N  Y  V  T         p.260

          .         .         .         .   | 11     .         .    g.71600
 ATTGGAGGTGAAACCTGTGGCTGCCTTGCCCATGAAATCTTG | GCGGGCTTTCTGAGCCTG    c.840
 I  G  G  E  T  C  G  C  L  A  H  E  I  L   | A  G  F  L  S  L      p.280

          .         .         .         .         .         .       g.71660
 ATCCCGGCCTGGGCCTTCTACAGCGGTGCCTTCCAAAGGCTGCTCCTGACACACTATGTG       c.900
 I  P  A  W  A  F  Y  S  G  A  F  Q  R  L  L  L  T  H  Y  V         p.300

          .         .         .                                     g.71693
 GCATACCTGAAGCTCAACACCAAGGTCAGGTAG                                  c.933
 A  Y  L  K  L  N  T  K  V  R  X                                    p.310

          .         .         .         .         .         .       g.71753
 ccaggcggtgaggagtccagcacaaccttttcctcaccagtcccatgctggctgaagagg       c.*60

          .         .         .         .         .         .       g.71813
 accagaggagcagaccagcacttcaacctagtccgctgaagatggagggggctggggtca       c.*120

          .         .         .                                     g.71846
 cagaggcatagaatacacattttttgccacttt                                  c.*153

 (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 Hydroxysteroid (17-beta) dehydrogenase 3 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.