steroid 5 alpha-reductase 3 (SRD5A3) - coding DNA reference sequence

(used for variant description)

(last modified March 20, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_024592.4 in the SRD5A3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_028230.1, covering SRD5A3 transcript NM_024592.4.

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

 (upstream sequence)
           .         .         .         .         .                g.5056
     ccgcgtcaccgacgtcccgctaggctgagaccggtgcgccgcgcgctagtggccgc       c.-61

 .         .         .         .         .         .                g.5116
 tcttccgcgggctagcgggcggtgggggcgccagcagcgcggaaggcgggcacgcgggcc       c.-1

          .         .         .         .         .         .       g.5176
 ATGGCTCCCTGGGCGGAGGCCGAGCACTCGGCGCTGAACCCGCTGCGCGCGGTGTGGCTC       c.60
 M  A  P  W  A  E  A  E  H  S  A  L  N  P  L  R  A  V  W  L         p.20

          .         .         .         .         .         .       g.5236
 ACGCTGACCGCCGCCTTCCTGCTGACCCTACTGCTGCAGCTCCTGCCGCCCGGCCTGCTC       c.120
 T  L  T  A  A  F  L  L  T  L  L  L  Q  L  L  P  P  G  L  L         p.40

          .         .         .         .         .         .       g.5296
 CCGGGCTGCGCGATCTTCCAGGACCTGATCCGCTATGGGAAAACCAAGTGTGGGGAGCCG       c.180
 P  G  C  A  I  F  Q  D  L  I  R  Y  G  K  T  K  C  G  E  P         p.60

          .         .         .         .  | 02      .         .    g.18144
 TCGCGCCCCGCCGCCTGCCGAGCCTTTGATGTCCCCAAGAG | ATATTTTTCCCACTTTTAT    c.240
 S  R  P  A  A  C  R  A  F  D  V  P  K  R  |  Y  F  S  H  F  Y      p.80

          .         .         .         .         .         .       g.18204
 ATCATCTCAGTGCTGTGGAATGGCTTCCTGCTTTGGTGCCTTACTCAATCTCTGTTCCTG       c.300
 I  I  S  V  L  W  N  G  F  L  L  W  C  L  T  Q  S  L  F  L         p.100

          .         .         .         .         .         .       g.18264
 GGAGCACCTTTTCCAAGCTGGCTTCATGGTTTGCTCAGAATTCTCGGGGCGGCACAGTTC       c.360
 G  A  P  F  P  S  W  L  H  G  L  L  R  I  L  G  A  A  Q  F         p.120

      | 03   .         .         .         .         .         .    g.22909
 CAGG | GAGGGGAGCTGGCACTGTCTGCATTCTTAGTGCTAGTATTTCTGTGGCTGCACAGC    c.420
 Q  G |   G  E  L  A  L  S  A  F  L  V  L  V  F  L  W  L  H  S      p.140

          .         .         .         .         .         .       g.22969
 TTACGAAGACTCTTCGAGTGCCTCTACGTCAGTGTCTTCTCCAATGTCATGATTCACGTC       c.480
 L  R  R  L  F  E  C  L  Y  V  S  V  F  S  N  V  M  I  H  V         p.160

          .         .         .         .         .         .       g.23029
 GTGCAGTACTGTTTTGGACTTGTCTATTATGTCCTTGTTGGCCTAACTGTGCTGAGCCAA       c.540
 V  Q  Y  C  F  G  L  V  Y  Y  V  L  V  G  L  T  V  L  S  Q         p.180

          .         .   | 04     .         .         .         .    g.26405
 GTGCCAATGGATGGCAGGAATG | CCTACATAACAGGGAAAAATCTATTGATGCAAGCACGG    c.600
 V  P  M  D  G  R  N  A |   Y  I  T  G  K  N  L  L  M  Q  A  R      p.200

          .         .         .         .         .         .       g.26465
 TGGTTCCATATTCTTGGGATGATGATGTTCATCTGGTCATCTGCCCATCAGTATAAGTGC       c.660
 W  F  H  I  L  G  M  M  M  F  I  W  S  S  A  H  Q  Y  K  C         p.220

          .         .         .        | 05.         .         .    g.28634
 CATGTTATTCTCGGCAATCTCAGGAAAAATAAAGCAG | GAGTGGTCATTCACTGTAACCAC    c.720
 H  V  I  L  G  N  L  R  K  N  K  A  G |   V  V  I  H  C  N  H      p.240

          .         .         .         .         .         .       g.28694
 AGGATCCCATTTGGAGACTGGTTTGAATATGTTTCTTCCCCTAACTACTTAGCAGAGCTG       c.780
 R  I  P  F  G  D  W  F  E  Y  V  S  S  P  N  Y  L  A  E  L         p.260

          .         .         .         .         .         .       g.28754
 ATGATCTACGTTTCCATGGCCGTCACCTTTGGGTTCCACAACTTAACTTGGTGGCTAGTG       c.840
 M  I  Y  V  S  M  A  V  T  F  G  F  H  N  L  T  W  W  L  V         p.280

          .         .         .         .         .         .       g.28814
 GTGACAAATGTCTTCTTTAATCAGGCCCTGTCTGCCTTTCTCAGCCACCAATTCTACAAA       c.900
 V  T  N  V  F  F  N  Q  A  L  S  A  F  L  S  H  Q  F  Y  K         p.300

          .         .         .         .         .                 g.28871
 AGCAAATTTGTCTCTTACCCGAAGCATAGGAAAGCTTTCCTACCATTTTTGTTTTAA          c.957
 S  K  F  V  S  Y  P  K  H  R  K  A  F  L  P  F  L  F  X            p.318

          .         .         .         .         .         .       g.28931
 gttaacctcagtcatgaagaatgcaaaccaggtgatggtttcaatgcctaaggacagtga       c.*60

          .         .         .         .         .         .       g.28991
 agtctggagcccaaagtacagtttcagcaaagctgtttgaaactctccattccatttcta       c.*120

          .         .         .         .         .         .       g.29051
 taccccacaagttttcactgaatgagcatggcagtgccactcaagaaaatgaatctccaa       c.*180

          .         .         .         .         .         .       g.29111
 agtatcttcaaagaataaatactaatggcagatctgcgatttctgggtccactttctgag       c.*240

          .         .         .         .         .         .       g.29171
 atgctttctaaaaccaaccaactgataaaaagtagatgagacttctccaagctgcttcac       c.*300

          .         .         .         .         .         .       g.29231
 aagcaaactaaccgaaaaaccgaaaatatacaaacagcttcacacacacacacacacaca       c.*360

          .         .         .         .         .         .       g.29291
 cacacacacacacacacacacaaaggaagatcatcaatggctgcggtagcctagtaggaa       c.*420

          .         .         .         .         .         .       g.29351
 tggactatataataatatagcaggtgctcaataactgtttgttgcatttcagtaaaagca       c.*480

          .         .         .         .         .         .       g.29411
 gaataacctttcaaaataataacaggctgggtgcaatggctcacacctgttaatcccagc       c.*540

          .         .         .         .         .         .       g.29471
 acttcgggaggccaaggtgggcagttcgcttgggcccaagagttcgagaccagcctgggc       c.*600

          .         .         .         .         .         .       g.29531
 aacatggtgaaaccctatctccgtgaaaaaatatgaaaattagccaagagtggtggcaca       c.*660

          .         .         .         .         .         .       g.29591
 tgcctgtagtcccagatacttgggagtgggctgagatgggagaatcgcttgagcccagga       c.*720

          .         .         .         .         .         .       g.29651
 ggtcaagggtacagtgagccgaggtcatgccactgcactccagcctggcctgggcaacag       c.*780

          .         .         .         .         .         .       g.29711
 agcaagaccctgtctcaaaataataataatatataattttacaccaaaagtttcaggaaa       c.*840

          .         .         .         .         .         .       g.29771
 aaacgagtttgttggagttagtttatactttcacatatcaccacaaagatctccagttaa       c.*900

          .         .         .         .         .         .       g.29831
 ataactatcaatatccatttccattcatctccccctcaaatcatagcctaacagaacact       c.*960

          .         .         .         .         .         .       g.29891
 ttgaaagctcttttatttaatatttttttacatcctttgaagggagtgcttcaaaaatga       c.*1020

          .         .         .         .         .         .       g.29951
 aagcatcagaagataaaatatttttatatttatgcatagcaagccttcgtgaacggaagt       c.*1080

          .         .         .         .         .         .       g.30011
 gacacactctggattgaataatactgtagcctcattcatatgtagttattcaaattggat       c.*1140

          .         .         .         .         .         .       g.30071
 taatgtctgtgtgagtttatttgaactagcagaaagtatctgaagatattcaggaataaa       c.*1200

          .         .         .         .         .         .       g.30131
 gtttatacttaaaatagcttatgttaaagaaaatacctgtgattaattcagagggaaata       c.*1260

          .         .         .         .         .         .       g.30191
 aatgcatggtataaaagaaaaccaaaaacttaaaaaataatactatagcctgagcaacac       c.*1320

          .         .         .         .         .         .       g.30251
 attaaaactgcacacttgtgcagcgtaagattctctggcttattggctgaggtgttaagt       c.*1380

          .         .         .         .         .         .       g.30311
 ttattccttttatgaagatgtcctattacagtcagctaagcactaaagctttgcatttat       c.*1440

          .         .         .         .         .         .       g.30371
 atgtactttgctatgggggaaagaaccttatgattaataagacacatatcaaatgcatag       c.*1500

          .         .         .         .         .         .       g.30431
 tcaatcattcccacccccatccctggagctgtaacccaaaactgttaaactaagattcct       c.*1560

          .         .         .         .         .         .       g.30491
 ttgttttttttgtttttttgagatggagtctcactctgtcgcccagactggagtgcagtg       c.*1620

          .         .         .         .         .         .       g.30551
 gtgggatcctggctcactgcaacctccgccttctgggttccagcgattctcctctgcctc       c.*1680

          .         .         .         .         .         .       g.30611
 agcctcccaagtagctgggattacaggcacatgccaccatgcccaggtaattgttgtatt       c.*1740

          .         .         .         .         .         .       g.30671
 tttagtagagatagagtttcaccatgttggccaggctggtctcaaactcctgacctcagg       c.*1800

          .         .         .         .         .         .       g.30731
 tgatccacctgcttcggcctcccaaagtgctgggattacaggtgtaagtcactgctcccg       c.*1860

          .         .         .         .         .         .       g.30791
 gatgcatgtcaagcacattggaaagttcttacaacaattctgatggaggattttctctcc       c.*1920

          .         .         .         .         .         .       g.30851
 catcaaccaaacaccacttaagattaacctgtggctcagtctacttaaataaatgccata       c.*1980

          .         .         .         .         .         .       g.30911
 tttattttacttatcatttagaatttgccattctcaggaacaaaactttttgtacattgg       c.*2040

          .         .         .         .         .         .       g.30971
 aaatggaaaacattgcagtttggtcttaatttccacatgaatatcaagtgtaatttttaa       c.*2100

          .         .         .         .         .         .       g.31031
 taaattatttggagaaaaatgtattttattttagcatgcaattttatgcccaggttagac       c.*2160

          .         .         .         .         .         .       g.31091
 tagagatttggctgatgttctggaatctcattgtactcttaagtaaaataacgagcatcc       c.*2220

          .         .         .         .         .         .       g.31151
 catgacgcaccctgtcaggggttgtgagaaagctgcagtgtccagtttcccacccctgtt       c.*2280

          .         .         .         .         .         .       g.31211
 tcctgctgtctctctcccactcatccctgtttcttactcatcccttttccttctttgccc       c.*2340

          .         .         .         .         .         .       g.31271
 aaacatcatatttctaggcaaagataagagaggagatagtgatgtcctgaaaggggttca       c.*2400

          .         .         .         .         .         .       g.31331
 gaacaacgtagcatggcctttggtgaaagcgtcaccgatgggaaataattgagaattgtg       c.*2460

          .         .         .         .         .         .       g.31391
 cagtgcttgcagcgtcagaatcagcactgttttttgtgttggtgaaaatattccatgtgc       c.*2520

          .         .         .         .         .         .       g.31451
 gtaaagggagagcatcagggactttgcaaattcttcacaaggacccagaaatagcttaaa       c.*2580

          .         .         .         .         .         .       g.31511
 gattcatggttttcctgttggcttaaatagccttaatctttcattttctactaccattaa       c.*2640

          .         .         .         .         .         .       g.31571
 gtcggggaaatgacattgaactacctcattagcagccttcccttgattaactactgacta       c.*2700

          .         .         .         .         .         .       g.31631
 aaagtgtgctgaaaatggcctttgtttttgtgaagctcatcctatacactaacatttgct       c.*2760

          .         .         .         .         .         .       g.31691
 taaccatggattattttgtctctacaaagctgtgccctgtattcgatttttacttcaatg       c.*2820

          .         .         .         .         .         .       g.31751
 agtggttattgctagaattcctacaaaaaaaaaaaaaaccgttgcagatatttttgtatg       c.*2880

          .         .         .         .         .         .       g.31811
 tagcttaatagatatttagtttaaggagactgcaacatttgcataaggtgcctaaaaact       c.*2940

          .         .         .         .         .         .       g.31871
 caagaaccattgataagtgagatcactcaaaatgagctgatatattaaagaagaccttaa       c.*3000

                                                                    g.31880
 aacagtaaa                                                          c.*3009

 (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 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.