steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) (SRD5A2) - coding DNA reference sequence

(used for variant description)

(last modified October 9, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_000348.3 in the SRD5A2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008365.1, covering SRD5A2 transcript NM_000348.3.

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

 (upstream sequence)
                                                   .                g.5011
                                                  tccataaaggg       c.-61

 .         .         .         .         .         .                g.5071
 gttgcgggggccgcgctctcttctgggagggcagcggccaccggcgaggaacacggcgcg       c.-1

          .         .         .         .         .         .       g.5131
 ATGCAGGTTCAGTGCCAGCAGAGCCCAGTGCTGGCAGGCAGCGCCACTTTGGTCGCCCTT       c.60
 M  Q  V  Q  C  Q  Q  S  P  V  L  A  G  S  A  T  L  V  A  L         p.20

          .         .         .         .         .         .       g.5191
 GGGGCACTGGCCTTGTACGTCGCGAAGCCCTCCGGCTACGGGAAGCACACGGAGAGCCTG       c.120
 G  A  L  A  L  Y  V  A  K  P  S  G  Y  G  K  H  T  E  S  L         p.40

          .         .         .         .         .         .       g.5251
 AAGCCGGCGGCTACCCGCCTGCCAGCCCGCGCCGCCTGGTTCCTGCAGGAGCTGCCTTCC       c.180
 K  P  A  A  T  R  L  P  A  R  A  A  W  F  L  Q  E  L  P  S         p.60

          .         .         .         .         .         .       g.5311
 TTCGCGGTGCCCGCGGGGATCCTCGCCCGGCAGCCCCTCTCCCTCTTCGGGCCACCTGGG       c.240
 F  A  V  P  A  G  I  L  A  R  Q  P  L  S  L  F  G  P  P  G         p.80

          .         .         .         .  | 02      .         .    g.52224
 ACGGTACTTCTGGGCCTCTTCTGCCTACATTACTTCCACAG | GACATTTGTGTACTCACTG    c.300
 T  V  L  L  G  L  F  C  L  H  Y  F  H  R  |  T  F  V  Y  S  L      p.100

          .         .         .         .         .         .       g.52284
 CTCAATCGAGGGAGGCCTTATCCAGCTATACTCATTCTCAGAGGCACTGCCTTCTGCACT       c.360
 L  N  R  G  R  P  Y  P  A  I  L  I  L  R  G  T  A  F  C  T         p.120

          .         .         .         .         .         .       g.52344
 GGAAATGGAGTCCTTCAAGGCTACTATCTGATTTACTGTGCTGAATACCCTGATGGGTGG       c.420
 G  N  G  V  L  Q  G  Y  Y  L  I  Y  C  A  E  Y  P  D  G  W         p.140

          .         .      | 03  .         .         .         .    g.54534
 TACACAGACATACGGTTTAGCTTGG | GTGTCTTCTTATTTATTTTGGGAATGGGAATAAAC    c.480
 Y  T  D  I  R  F  S  L  G |   V  F  L  F  I  L  G  M  G  I  N      p.160

          .         .         .         .         .         .       g.54594
 ATTCATAGTGACTATATATTGCGCCAGCTCAGGAAGCCTGGAGAAATCAGCTACAGGATT       c.540
 I  H  S  D  Y  I  L  R  Q  L  R  K  P  G  E  I  S  Y  R  I         p.180

         | 04.         .         .         .         .         .    g.56567
 CCACAAG | GTGGCTTGTTTACGTATGTTTCTGGAGCCAATTTCCTCGGTGAGATCATTGAA    c.600
 P  Q  G |   G  L  F  T  Y  V  S  G  A  N  F  L  G  E  I  I  E      p.200

          .         .         .         .         .         .       g.56627
 TGGATCGGCTATGCCCTGGCCACTTGGTCCCTCCCAGCACTTGCATTTGCATTTTTCTCA       c.660
 W  I  G  Y  A  L  A  T  W  S  L  P  A  L  A  F  A  F  F  S         p.220

          .         .         .         | 05         .         .    g.59731
 CTTTGTTTCCTTGGGCTGCGAGCTTTTCACCACCATAG | GTTCTACCTCAAGATGTTTGAG    c.720
 L  C  F  L  G  L  R  A  F  H  H  H  R  |  F  Y  L  K  M  F  E      p.240

          .         .         .         .                           g.59776
 GACTACCCCAAATCTCGGAAAGCCCTTATTCCATTCATCTTTTAA                      c.765
 D  Y  P  K  S  R  K  A  L  I  P  F  I  F  X                        p.254

          .         .         .         .         .         .       g.59836
 aggaaccaaattaaaaaggagcagagctcccacaatgctgatgaaaactgtcaagctgct       c.*60

          .         .         .         .         .         .       g.59896
 gaaactgtaattttcatgatataatagtcccgtatatatgtaatagtaggtctcctggcg       c.*120

          .         .         .         .         .         .       g.59956
 ttctgccagctggcctggggattctgagtggtgtctgcttagagtttactcctacccttc       c.*180

          .         .         .         .         .         .       g.60016
 cagggacccctatcctgatccccaactgaagcttcaaaaagccacttttccaaatggcga       c.*240

          .         .         .         .         .         .       g.60076
 cagttgcttcttagctattgctctgagaaagtacaaacttctcctatgtctttcaccggg       c.*300

          .         .         .         .         .         .       g.60136
 caatccaagtacatgtggcttcatacccactccctgtcaatgcaggacaactctgtaatc       c.*360

          .         .         .         .         .         .       g.60196
 aagaattttttgacttgaaggcagtacttatagaccttattaaaggtatgcattttatac       c.*420

          .         .         .         .         .         .       g.60256
 atgtaacagagtagcagaaatttaaactctgaagccacaaagacccagagcaaacccact       c.*480

          .         .         .         .         .         .       g.60316
 cccaaatgaaaaccccagtcatggcttcctttttcttggttaattaggaaagatgagaaa       c.*540

          .         .         .         .         .         .       g.60376
 ttattaggtagaccttgaatacaggagccctctcctcatagtgctgaaaagatactgatg       c.*600

          .         .         .         .         .         .       g.60436
 cattgacctcatttcaaatttgtgcagtgtcttagttgatgagtgcctctgttttccaga       c.*660

          .         .         .         .         .         .       g.60496
 agatttcacaatccccggaaaactggtatggctattcttgaaggccaggttttaataacc       c.*720

          .         .         .         .         .         .       g.60556
 acaaacaaaaaggcatgaacctgggtggcttatgagagagtagagaacaacatgaccctg       c.*780

          .         .         .         .         .         .       g.60616
 gatggctactaagaggatagagaacagttttacaatagacattgcaaactctcatgtttt       c.*840

          .         .         .         .         .         .       g.60676
 tggaaactagtggcaatatccaaataatgagtagtgtaaaacaaagagaattaatgatga       c.*900

          .         .         .         .         .         .       g.60736
 ggttacatgctgcttgcctccaccagatgtccacaacaatatgaagtacagcagaagccc       c.*960

          .         .         .         .         .         .       g.60796
 caagcaactttcctttcctggagcttcttccttgtagttctcaggacctgttcaagaagg       c.*1020

          .         .         .         .         .         .       g.60856
 tgtctcctaggggcagcctgaatgcctccctcaaaggacctgcaggcagagactgaaaat       c.*1080

          .         .         .         .         .         .       g.60916
 tgcagacagaggggcacgtctgggcagaaaacctgttttgtttggctcagacatatagtt       c.*1140

          .         .         .         .         .         .       g.60976
 ttttttttttttacaaagtttcaaaaacttaaaaatcaggagattccttcataaaactct       c.*1200

          .         .         .         .         .         .       g.61036
 agcattctagtttcatttaaaaagttggaggatctgaacatacagagcccacatttccac       c.*1260

          .         .         .         .         .         .       g.61096
 accagaactggaactacgtagctagtaagcatttgagtttgcaaactcttgtgaaggggt       c.*1320

          .         .         .         .         .         .       g.61156
 caccccagcatgagtgctgagatatggactctctaaggaaggggccgaacgcttgtaatt       c.*1380

          .         .         .         .         .         .       g.61216
 ggaatacatggaaatatttgtcttctcaggcctatgtttgcggaatgcattgtcaatatt       c.*1440

          .         .         .         .         .         .       g.61276
 tagcaaactgttttgacaaatgagcaccagtggtactaagcacagaaactcactatataa       c.*1500

          .         .         .         .         .         .       g.61336
 gtcacataggaaacttgaaaggtctgaggatgatgtagattactgaaaaatgcaaattgc       c.*1560

          .         .         .         .         .                 g.61386
 aatcatataaataagtgtttttgttgttcattaaatacctttaaatcatg                 c.*1610

 (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 Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 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.