POU class 3 homeobox 2 (POU3F2) - coding DNA reference sequence

(used for variant description)

(last modified August 15, 2023)

This file was created to facilitate the description of sequence variants on transcript NM_005604.3 in the POU3F2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000006.11, covering POU3F2 transcript NM_005604.3.

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

 (upstream sequence)
           .         .         .         .         .                g.5050
           agtaatagcaggagcagcaacagaaggcgtcggagcgggcgtcggagctg       c.-121

 .         .         .         .         .         .                g.5110
 cccgctgtgggagagagaggagacagaaagagcgagcgaggagagggagcccgaggcgaa       c.-61

 .         .         .         .         .         .                g.5170
 aaagtaactgtcaaatgcgcggctcctttaaccggagcgctcagtccggctccgagagtc       c.-1

          .         .         .         .         .         .       g.5230
 ATGGCGACCGCAGCGTCTAACCACTACAGCCTGCTCACCTCCAGCGCCTCCATCGTGCAC       c.60
 M  A  T  A  A  S  N  H  Y  S  L  L  T  S  S  A  S  I  V  H         p.20

          .         .         .         .         .         .       g.5290
 GCCGAGCCGCCCGGCGGCATGCAGCAGGGCGCGGGGGGCTACCGCGAAGCGCAGAGCCTG       c.120
 A  E  P  P  G  G  M  Q  Q  G  A  G  G  Y  R  E  A  Q  S  L         p.40

          .         .         .         .         .         .       g.5350
 GTGCAGGGCGACTACGGCGCTCTGCAGAGCAACGGACACCCGCTCAGCCACGCTCACCAG       c.180
 V  Q  G  D  Y  G  A  L  Q  S  N  G  H  P  L  S  H  A  H  Q         p.60

          .         .         .         .         .         .       g.5410
 TGGATCACCGCGCTGTCCCACGGCGGCGGCGGCGGGGGCGGTGGCGGCGGCGGGGGGGGC       c.240
 W  I  T  A  L  S  H  G  G  G  G  G  G  G  G  G  G  G  G  G         p.80

          .         .         .         .         .         .       g.5470
 GGGGGCGGCGGCGGGGGCGGCGGCGACGGCTCCCCGTGGTCCACCAGCCCCCTGGGCCAG       c.300
 G  G  G  G  G  G  G  G  D  G  S  P  W  S  T  S  P  L  G  Q         p.100

          .         .         .         .         .         .       g.5530
 CCGGACATCAAGCCCTCGGTGGTGGTGCAGCAGGGCGGCCGCGGAGACGAGCTGCACGGG       c.360
 P  D  I  K  P  S  V  V  V  Q  Q  G  G  R  G  D  E  L  H  G         p.120

          .         .         .         .         .         .       g.5590
 CCAGGCGCCCTGCAGCAGCAGCATCAGCAGCAGCAACAGCAACAGCAGCAGCAACAGCAG       c.420
 P  G  A  L  Q  Q  Q  H  Q  Q  Q  Q  Q  Q  Q  Q  Q  Q  Q  Q         p.140

          .         .         .         .         .         .       g.5650
 CAACAGCAGCAGCAGCAGCAGCAACAGCGGCCGCCGCATCTGGTGCACCACGCCGCTAAC       c.480
 Q  Q  Q  Q  Q  Q  Q  Q  Q  R  P  P  H  L  V  H  H  A  A  N         p.160

          .         .         .         .         .         .       g.5710
 CACCACCCGGGACCCGGGGCATGGCGGAGCGCGGCGGCTGCAGCGCACCTCCCACCCTCC       c.540
 H  H  P  G  P  G  A  W  R  S  A  A  A  A  A  H  L  P  P  S         p.180

          .         .         .         .         .         .       g.5770
 ATGGGAGCGTCCAACGGCGGCTTGCTCTACTCGCAGCCCAGCTTCACGGTGAACGGCATG       c.600
 M  G  A  S  N  G  G  L  L  Y  S  Q  P  S  F  T  V  N  G  M         p.200

          .         .         .         .         .         .       g.5830
 CTGGGCGCCGGCGGGCAGCCGGCCGGTCTGCACCACCACGGCCTGCGGGACGCGCACGAC       c.660
 L  G  A  G  G  Q  P  A  G  L  H  H  H  G  L  R  D  A  H  D         p.220

          .         .         .         .         .         .       g.5890
 GAGCCACACCATGCCGACCACCACCCGCACCCGCACTCGCACCCACACCAGCAGCCGCCG       c.720
 E  P  H  H  A  D  H  H  P  H  P  H  S  H  P  H  Q  Q  P  P         p.240

          .         .         .         .         .         .       g.5950
 CCCCCGCCGCCCCCGCAGGGTCCGCCTGGCCACCCAGGCGCGCACCACGACCCGCACTCG       c.780
 P  P  P  P  P  Q  G  P  P  G  H  P  G  A  H  H  D  P  H  S         p.260

          .         .         .         .         .         .       g.6010
 GACGAGGACACGCCGACCTCGGACGACCTGGAGCAGTTCGCCAAGCAGTTCAAGCAGCGG       c.840
 D  E  D  T  P  T  S  D  D  L  E  Q  F  A  K  Q  F  K  Q  R         p.280

          .         .         .         .         .         .       g.6070
 CGGATCAAACTGGGATTTACCCAAGCGGACGTGGGGCTGGCTCTGGGCACCCTGTATGGC       c.900
 R  I  K  L  G  F  T  Q  A  D  V  G  L  A  L  G  T  L  Y  G         p.300

          .         .         .         .         .         .       g.6130
 AACGTGTTCTCGCAGACCACCATCTGCAGGTTTGAGGCCCTGCAGCTGAGCTTCAAGAAC       c.960
 N  V  F  S  Q  T  T  I  C  R  F  E  A  L  Q  L  S  F  K  N         p.320

          .         .         .         .         .         .       g.6190
 ATGTGCAAGCTGAAGCCTTTGTTGAACAAGTGGTTGGAGGAGGCGGACTCGTCCTCGGGC       c.1020
 M  C  K  L  K  P  L  L  N  K  W  L  E  E  A  D  S  S  S  G         p.340

          .         .         .         .         .         .       g.6250
 AGCCCCACGAGCATAGACAAGATCGCAGCGCAAGGGCGCAAGCGGAAAAAGCGGACCTCC       c.1080
 S  P  T  S  I  D  K  I  A  A  Q  G  R  K  R  K  K  R  T  S         p.360

          .         .         .         .         .         .       g.6310
 ATCGAGGTGAGCGTCAAGGGGGCTCTGGAGAGCCATTTCCTCAAATGCCCCAAGCCCTCG       c.1140
 I  E  V  S  V  K  G  A  L  E  S  H  F  L  K  C  P  K  P  S         p.380

          .         .         .         .         .         .       g.6370
 GCCCAGGAGATCACCTCCCTCGCGGACAGCTTACAGCTGGAGAAGGAGGTGGTGAGAGTT       c.1200
 A  Q  E  I  T  S  L  A  D  S  L  Q  L  E  K  E  V  V  R  V         p.400

          .         .         .         .         .         .       g.6430
 TGGTTTTGTAACAGGAGACAGAAAGAGAAAAGGATGACCCCTCCCGGAGGGACTCTGCCG       c.1260
 W  F  C  N  R  R  Q  K  E  K  R  M  T  P  P  G  G  T  L  P         p.420

          .         .         .         .         .         .       g.6490
 GGCGCCGAGGATGTGTACGGGGGGAGTAGGGACACTCCACCACACCACGGGGTGCAGACG       c.1320
 G  A  E  D  V  Y  G  G  S  R  D  T  P  P  H  H  G  V  Q  T         p.440

          .                                                         g.6502
 CCCGTCCAGTGA                                                       c.1332
 P  V  Q  X                                                         p.443

          .         .         .         .         .         .       g.6562
 actcgagctgggggaggggcagagcgcggggctccccctccccttcggtccttggccctt       c.*60

          .         .         .         .         .         .       g.6622
 tcccggccctcttgttccctctctaacttctgattgttcttttatttttaattattattt       c.*120

          .         .         .         .         .         .       g.6682
 ccccgtcccttaaaaagacaaaaaaaataaggcaaaaggaaagcaactaagacactggac       c.*180

          .         .         .         .         .         .       g.6742
 tatcctttaaaggtagcaggtgtaatgatgtgttttgacctttgcaggcgagtaaccagg       c.*240

          .         .         .         .         .         .       g.6802
 caatggagtggagtgtctcctggagagagtgaggagagtgtgtgatagctagaaagagag       c.*300

          .         .         .         .         .         .       g.6862
 agagacagagagatggcaagcactgagataaatacctggcaaaactaaataaattaccaa       c.*360

          .         .         .         .         .         .       g.6922
 aaaggaaaaaaaatccaccaaaccatgataaacacaaaatgcagcttcctgatgcttaga       c.*420

          .         .         .         .         .         .       g.6982
 gttggcacatgctgctgtgtttatttattgtggattcccatcaggaaagaggaaaaaata       c.*480

          .         .         .         .         .         .       g.7042
 cacatgttctttcatataggcaaaatttaaccacataaatttgcactgcaagaaaattga       c.*540

          .         .         .         .         .         .       g.7102
 agtttacgtgaacaaattcatgagcatattttctctttctccccaccgttaatttgggag       c.*600

          .         .         .         .         .         .       g.7162
 ttgccgttttgggggattttgttttgctttgctttattcatcggagagagttgaagccag       c.*660

          .         .         .         .         .         .       g.7222
 ctcttggccactctccatttctaatgttcttgtgttgccccttcttcgtactgtttgtga       c.*720

          .         .         .         .         .         .       g.7282
 actttggttaccttcacattccccttacgagggtgtaacatctatttgttcctcttacca       c.*780

          .         .         .         .         .         .       g.7342
 aagcaaaaggattggcttcatacaaaatagacaattctctgatttcaggaaatgtgcatg       c.*840

          .         .         .         .         .         .       g.7402
 gtctacccgctttatcgaaggcaagaatccggtttggaatataaaaataagcattggttg       c.*900

          .         .         .         .         .         .       g.7462
 ttcttaccagccacaaagtaaacttcattttcaggcagtgtttctgggggaggttatgga       c.*960

          .         .         .         .         .         .       g.7522
 gggaagaaaaaagaaaaatcgatagtgagtgactgattgcttcattttatcaggcgggcc       c.*1020

          .         .         .         .         .         .       g.7582
 cattgtgaaagagctcaggggaaatgtggaggttaaatatatttccagagttgtccagca       c.*1080

          .         .         .         .         .         .       g.7642
 gaaagaaagtggcactttgaagagaactagggaagtacatatcttcagatatccctatat       c.*1140

          .         .         .         .         .         .       g.7702
 agttctctaccttcagttttagtaacaattatgaagaattatttgtgctgacagcagcag       c.*1200

          .         .         .         .         .         .       g.7762
 ttaaactttgtttctctaatagctttttttttacataaaaaaagacccaggaacttaata       c.*1260

          .         .         .         .         .         .       g.7822
 gtgtatgcataagactgtgttttttagcacacagatacccacagcatacactgacgatct       c.*1320

          .         .         .         .         .         .       g.7882
 ccacgcagtagacaggttttgtcttcactagctcatttgtttatcaagtcatatttaggg       c.*1380

          .         .         .         .         .         .       g.7942
 tcccacaccctcttttcctgtaatttattgcagaatacaccactttgacttggacagctt       c.*1440

          .         .         .         .         .         .       g.8002
 tctgccccctctttcactaaggaaggcaaatgaagtgaaaaaaaaaaatgccattttcaa       c.*1500

          .         .         .         .         .         .       g.8062
 tccttcctttctcccctttgttaatagttttaagtgaatttttgaccttatcttaatgga       c.*1560

          .         .         .         .         .         .       g.8122
 aaacggttaactccaaacacaaaagactctactggaaagtgtaggtgaaaaaacttgtaa       c.*1620

          .         .         .         .         .         .       g.8182
 ctgtattgaaaataaataccattaaactgtgatcagttaaaatttaaaagaaaaatcagc       c.*1680

          .         .         .         .         .         .       g.8242
 acaaaagggcgctaaaagggaaaacactttttattaatcttaaaagtttgggggtttttt       c.*1740

          .         .         .         .         .         .       g.8302
 tccagttaggtattagataaatttttattttaaaaaatgaaagtctcactaccataaaat       c.*1800

          .         .         .         .         .         .       g.8362
 tatggttcagcatcagattagcattgcactcagtagtctttaaggttttaggaaatatgc       c.*1860

          .         .         .         .         .         .       g.8422
 tttatattgtcttttcaaacacctgtgattgtttcattttccatgtttttgcaagataaa       c.*1920

          .         .         .         .         .         .       g.8482
 tggtgacttataatgggcatatttatttgcctgtatttcatttcccccaatgaatgtcac       c.*1980

          .         .         .         .         .         .       g.8542
 aaggagatgggcacggagctgcttcgggtgcatcacgctgctcgttcctgaggtatggga       c.*2040

          .         .         .         .         .         .       g.8602
 actggcctttagtgaagctatccagagcagggcaaatagccactggtaaagggaggaaat       c.*2100

          .         .         .         .         .         .       g.8662
 gaatttccagatacttattaccaagtaggtaaggtcagaagctggagttcagagaatgtg       c.*2160

          .         .         .         .         .         .       g.8722
 tctacagcttctctgactcttataggtttactaagatgaaagttaccactgaaccttacc       c.*2220

          .         .         .         .         .         .       g.8782
 actatgtatatatgtttaatatctgtcttttgaaatgcagaaatagtttaaatgtttctt       c.*2280

          .         .         .         .         .         .       g.8842
 tgtctatttttctttttttttaatgctacccagggaaatattttcatatcatttttaagt       c.*2340

          .         .         .         .         .         .       g.8902
 ggcctgcctcaatgtatatttatttcttttgaaacaaaaaggttctggaaactgtttttc       c.*2400

          .         .         .         .         .         .       g.8962
 tgtagctttaaatgaataggtgagcaaaatctatatgggatgtaatttttttgttcagtc       c.*2460

          .         .         .         .         .         .       g.9022
 tcttaaaaaatactttgttttggtacatttggttgtgcttgtggggaaaataaaaacgca       c.*2520

          .         .         .         .         .         .       g.9082
 gagatccttatatatttatgttaaagtaatattttattatctacataaaacagaaatgca       c.*2580

                                                                    g.9087
 caata                                                              c.*2585

 (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 POU class 3 homeobox 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.