POU class 3 homeobox 3 (POU3F3) - coding DNA reference sequence

(used for variant description)

(last modified August 8, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_006236.1 in the POU3F3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000002.11, covering POU3F3 transcript NM_006236.1.

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

 (upstream sequence)
          .         .         .         .         .         .       g.60
 ATGGCCACGGCGGCTTCTAACCCCTACCTGCCGGGGAACAGCCTGCTCGCGGCCGGCTCT       c.60
 M  A  T  A  A  S  N  P  Y  L  P  G  N  S  L  L  A  A  G  S         p.20

          .         .         .         .         .         .       g.120
 ATTGTGCACTCGGACGCGGCAGGGGCTGGCGGCGGCGGGGGTGGCGGCGGCGGCGGCGGC       c.120
 I  V  H  S  D  A  A  G  A  G  G  G  G  G  G  G  G  G  G  G         p.40

          .         .         .         .         .         .       g.180
 GGGGGCGGCGCAGGGGGCGGGGGCGGCGGCATGCAGCCGGGCAGCGCCGCCGTGACCTCG       c.180
 G  G  G  A  G  G  G  G  G  G  M  Q  P  G  S  A  A  V  T  S         p.60

          .         .         .         .         .         .       g.240
 GGCGCCTACCGGGGGGACCCGTCCTCTGTCAAGATGGTCCAGAGCGACTTCATGCAGGGG       c.240
 G  A  Y  R  G  D  P  S  S  V  K  M  V  Q  S  D  F  M  Q  G         p.80

          .         .         .         .         .         .       g.300
 GCCATGGCCGCCAGCAACGGCGGCCATATGCTGAGCCACGCGCACCAGTGGGTCACAGCC       c.300
 A  M  A  A  S  N  G  G  H  M  L  S  H  A  H  Q  W  V  T  A         p.100

          .         .         .         .         .         .       g.360
 CTGCCCCACGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGTGGAGGCGAGCTCG       c.360
 L  P  H  A  A  A  A  A  A  A  A  A  A  A  A  V  E  A  S  S         p.120

          .         .         .         .         .         .       g.420
 CCGTGGTCGGGCAGCGCCGTGGGCATGGCTGGCAGCCCCCAGCAGCCACCGCAGCCGCCG       c.420
 P  W  S  G  S  A  V  G  M  A  G  S  P  Q  Q  P  P  Q  P  P         p.140

          .         .         .         .         .         .       g.480
 CCGCCACCGCCGCAGGGCCCCGACGTGAAGGGCGGCGCCGGGCGCGACGACCTGCACGCG       c.480
 P  P  P  P  Q  G  P  D  V  K  G  G  A  G  R  D  D  L  H  A         p.160

          .         .         .         .         .         .       g.540
 GGCACAGCGCTGCACCACCGCGGGCCGCCGCACCTCGGACCCCCGCCGCCGCCCCCACAC       c.540
 G  T  A  L  H  H  R  G  P  P  H  L  G  P  P  P  P  P  P  H         p.180

          .         .         .         .         .         .       g.600
 CAGGGCCACCCTGGGGGCTGGGGGGCGGCCGCCGCTGCCGCAGCCGCAGCCGCCGCCGCC       c.600
 Q  G  H  P  G  G  W  G  A  A  A  A  A  A  A  A  A  A  A  A         p.200

          .         .         .         .         .         .       g.660
 GCCGCCGCCGCGCACCTCCCGTCCATGGCCGGGGGCCAGCAGCCGCCGCCGCAGAGTCTG       c.660
 A  A  A  A  H  L  P  S  M  A  G  G  Q  Q  P  P  P  Q  S  L         p.220

          .         .         .         .         .         .       g.720
 CTCTACTCGCAGCCCGGAGGCTTCACGGTGAACGGCATGCTGAGCGCGCCACCGGGGCCC       c.720
 L  Y  S  Q  P  G  G  F  T  V  N  G  M  L  S  A  P  P  G  P         p.240

          .         .         .         .         .         .       g.780
 GGCGGCGGCGGCGGCGGCGCGGGCGGTGGAGCCCAGAGCTTGGTGCACCCGGGGCTGGTG       c.780
 G  G  G  G  G  G  A  G  G  G  A  Q  S  L  V  H  P  G  L  V         p.260

          .         .         .         .         .         .       g.840
 CGCGGGGACACGCCAGAGCTGGCCGAGCACCACCACCACCACCACCACCACGCGCATCCT       c.840
 R  G  D  T  P  E  L  A  E  H  H  H  H  H  H  H  H  A  H  P         p.280

          .         .         .         .         .         .       g.900
 CACCCGCCGCACCCGCACCACGCGCAGGGACCCCCGCACCACGGCGGCGGCGGCGGCGGC       c.900
 H  P  P  H  P  H  H  A  Q  G  P  P  H  H  G  G  G  G  G  G         p.300

          .         .         .         .         .         .       g.960
 GCGGGGCCTGGACTCAACAGCCACGACCCGCACTCGGACGAGGACACGCCGACGTCGGAC       c.960
 A  G  P  G  L  N  S  H  D  P  H  S  D  E  D  T  P  T  S  D         p.320

          .         .         .         .         .         .       g.1020
 GACCTGGAGCAGTTCGCCAAGCAGTTCAAGCAGCGGCGCATCAAGCTGGGCTTCACGCAG       c.1020
 D  L  E  Q  F  A  K  Q  F  K  Q  R  R  I  K  L  G  F  T  Q         p.340

          .         .         .         .         .         .       g.1080
 GCCGACGTGGGGTTGGCGCTGGGCACACTCTACGGCAACGTGTTCTCGCAGACCACCATC       c.1080
 A  D  V  G  L  A  L  G  T  L  Y  G  N  V  F  S  Q  T  T  I         p.360

          .         .         .         .         .         .       g.1140
 TGCCGCTTCGAGGCCCTGCAGCTGAGCTTCAAGAACATGTGCAAGCTCAAGCCGCTGCTG       c.1140
 C  R  F  E  A  L  Q  L  S  F  K  N  M  C  K  L  K  P  L  L         p.380

          .         .         .         .         .         .       g.1200
 AACAAGTGGCTGGAGGAGGCGGACTCAAGCACCGGCAGCCCCACAAGCATCGACAAGATC       c.1200
 N  K  W  L  E  E  A  D  S  S  T  G  S  P  T  S  I  D  K  I         p.400

          .         .         .         .         .         .       g.1260
 GCGGCGCAGGGCCGCAAGCGCAAGAAGCGGACCTCTATCGAGGTGAGCGTCAAGGGCGCG       c.1260
 A  A  Q  G  R  K  R  K  K  R  T  S  I  E  V  S  V  K  G  A         p.420

          .         .         .         .         .         .       g.1320
 CTGGAGAGCCACTTCCTCAAGTGCCCCAAGCCCTCCGCGCAGGAGATCACCAACCTGGCC       c.1320
 L  E  S  H  F  L  K  C  P  K  P  S  A  Q  E  I  T  N  L  A         p.440

          .         .         .         .         .         .       g.1380
 GACAGCCTGCAGCTCGAGAAGGAGGTGGTGCGGGTCTGGTTCTGCAATCGGCGCCAAAAG       c.1380
 D  S  L  Q  L  E  K  E  V  V  R  V  W  F  C  N  R  R  Q  K         p.460

          .         .         .         .         .         .       g.1440
 GAGAAGCGCATGACGCCGCCCGGGATCCAACAGCAGACGCCCGACGACGTCTACTCGCAG       c.1440
 E  K  R  M  T  P  P  G  I  Q  Q  Q  T  P  D  D  V  Y  S  Q         p.480

          .         .         .         .         .         .       g.1500
 GTGGGCACCGTGAGCGCCGACACGCCGCCGCCTCACCACGGGCTGCAGACGAGCGTTCAG       c.1500
 V  G  T  V  S  A  D  T  P  P  P  H  H  G  L  Q  T  S  V  Q         p.500

                                                                    g.1503
 TGA                                                                c.1503
 X                                                                  p.500

 

 (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 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.