hydroxysteroid (17-beta) dehydrogenase 10 (HSD17B10) - coding DNA reference sequence

(used for mutation description)

(last modified July 20, 2012)

This file was created to facilitate the description of sequence variants on transcript NM_004493.2 in the HSD17B10 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000023.10, covering HSD17B10 transcript NM_004493.2.

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

 (upstream sequence)
                               .         .         .                g.5031
                              atccccatcccgtggagtggccggcgacaag       c.-1

          .         .        | 02.         .         .         .    g.5523
 ATGGCAGCAGCGTGTCGGAGCGTGAAG | GGCCTGGTGGCGGTAATAACCGGAGGAGCCTCG    c.60
 M  A  A  A  C  R  S  V  K   | G  L  V  A  V  I  T  G  G  A  S      p.20

          .         .         .         .         .         .       g.5583
 GGCCTGGGCCTGGCCACGGCGGAGCGACTTGTGGGGCAGGGAGCCTCTGCTGTGCTTCTG       c.120
 G  L  G  L  A  T  A  E  R  L  V  G  Q  G  A  S  A  V  L  L         p.40

          .         .         .         .         .         .       g.5643
 GACCTGCCCAACTCGGGTGGGGAGGCCCAAGCCAAGAAGTTAGGAAACAACTGCGTTTTC       c.180
 D  L  P  N  S  G  G  E  A  Q  A  K  K  L  G  N  N  C  V  F         p.60

          .   | 03     .         .         .         .         .    g.7012
 GCCCCAGCCGAC | GTGACCTCTGAGAAGGATGTGCAAACAGCTCTGGCTCTAGCAAAAGGA    c.240
 A  P  A  D   | V  T  S  E  K  D  V  Q  T  A  L  A  L  A  K  G      p.80

          .         .         .         .         .         .       g.7072
 AAGTTTGGCCGTGTGGATGTAGCTGTCAACTGTGCAGGCATCGCGGTGGCTAGCAAGACG       c.300
 K  F  G  R  V  D  V  A  V  N  C  A  G  I  A  V  A  S  K  T         p.100

          .         .         .         .         .        | 04.    g.7262
 TACAACTTAAAGAAGGGCCAGACCCATACCTTGGAAGACTTCCAGCGAGTTCTTGAT | GTG    c.360
 Y  N  L  K  K  G  Q  T  H  T  L  E  D  F  Q  R  V  L  D   | V      p.120

          .         .         .         .         .         .       g.7322
 AATCTCATGGGCACCTTCAATGTGATCCGCCTGGTGGCTGGTGAGATGGGCCAGAATGAA       c.420
 N  L  M  G  T  F  N  V  I  R  L  V  A  G  E  M  G  Q  N  E         p.140

          .         .         .         .         .         .       g.7382
 CCAGACCAGGGAGGCCAACGTGGGGTCATCATCAACACTGCCAGTGTGGCTGCCTTCGAG       c.480
 P  D  Q  G  G  Q  R  G  V  I  I  N  T  A  S  V  A  A  F  E         p.160

        | 05 .         .         .         .         .         .    g.7523
 GGTCAG | GTTGGACAAGCTGCATACTCTGCTTCCAAGGGGGGAATAGTGGGCATGACACTG    c.540
 G  Q   | V  G  Q  A  A  Y  S  A  S  K  G  G  I  V  G  M  T  L      p.180

          .         .         .         .         .      | 06  .    g.7786
 CCCATTGCTCGGGATCTGGCTCCCATAGGTATCCGGGTGATGACCATTGCCCCAG | GTCTG    c.600
 P  I  A  R  D  L  A  P  I  G  I  R  V  M  T  I  A  P  G |   L      p.200

          .         .         .         .         .         .       g.7846
 TTTGGCACCCCACTGCTGACCAGCCTCCCAGAGAAAGTGTGCAACTTCTTGGCCAGCCAA       c.660
 F  G  T  P  L  L  T  S  L  P  E  K  V  C  N  F  L  A  S  Q         p.220

          .         .         .         .         .         .       g.7906
 GTGCCCTTCCCTAGCCGACTGGGTGACCCTGCTGAGTATGCTCACCTCGTACAGGCCATC       c.720
 V  P  F  P  S  R  L  G  D  P  A  E  Y  A  H  L  V  Q  A  I         p.240

          .         .         .         .         .         .       g.7966
 ATCGAGAACCCATTCCTCAATGGAGAGGTCATCCGGCTGGATGGGGCCATTCGTATGCAG       c.780
 I  E  N  P  F  L  N  G  E  V  I  R  L  D  G  A  I  R  M  Q         p.260

                                                                    g.7972
 CCTTGA                                                             c.786
 P  X                                                               p.261

          .         .         .         .         .         .       g.8032
 agggagaaggcagagaaaacacacgctcctctgcccttcctttccctggggtactactct       c.*60

          .         .         .         .         .         .       g.8092
 ccagcttgggaggaagcccagtagccattttgtaactgcctaccagtcgccctctgtgcc       c.*120

          .         .                                               g.8118
 taataaagtctctttttctcacagag                                         c.*146

 (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 10 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.