POU class 4 homeobox 3 (POU4F3) - coding DNA reference sequence

(used for variant description)

(last modified October 17, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_002700.2 in the POU4F3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_011885.1, covering POU4F3 transcript NM_002700.2.

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

 (upstream sequence)
                                         .         .                g.5029
                                cgctgagcagcgctcacttggagagcggc       c.-61

 .         .         .         .         .         .                g.5089
 aagcaagctagacaagcctgattccatgtcacccgctgccaccctgccaggagcgcgaag       c.-1

          .         .         .         .         .         .       g.5149
 ATGATGGCCATGAACTCCAAGCAGCCTTTCGGCATGCACCCGGTGCTGCAAGAACCCAAA       c.60
 M  M  A  M  N  S  K  Q  P  F  G  M  H  P  V  L  Q  E  P  K         p.20

          .         .         .         .         .         .       g.5209
 TTCTCCAGTCTGCACTCTGGCTCCGAGGCCATGCGCCGAGTCTGTCTCCCAGCCCCGCAG       c.120
 F  S  S  L  H  S  G  S  E  A  M  R  R  V  C  L  P  A  P  Q         p.40

  | 02       .         .         .         .         .         .    g.5584
  | CTGCAGGGTAATATATTTGGAAGCTTTGATGAGAGCCTGCTGGCACGCGCCGAAGCTCTG    c.180
  | L  Q  G  N  I  F  G  S  F  D  E  S  L  L  A  R  A  E  A  L      p.60

          .         .         .         .         .         .       g.5644
 GCGGCGGTGGATATCGTCTCCCACGGCAAGAACCATCCGTTCAAGCCCGACGCCACCTAC       c.240
 A  A  V  D  I  V  S  H  G  K  N  H  P  F  K  P  D  A  T  Y         p.80

          .         .         .         .         .         .       g.5704
 CATACCATGAGCAGCGTGCCCTGCACGTCCACTTCGTCCACCGTGCCCATCTCCCACCCA       c.300
 H  T  M  S  S  V  P  C  T  S  T  S  S  T  V  P  I  S  H  P         p.100

          .         .         .         .         .         .       g.5764
 GCTGCGCTCACCTCACACCCTCACCACGCCGTGCACCAGGGCCTCGAAGGCGACCTGCTG       c.360
 A  A  L  T  S  H  P  H  H  A  V  H  Q  G  L  E  G  D  L  L         p.120

          .         .         .         .         .         .       g.5824
 GAGCACATCTCGCCCACGCTGAGTGTGAGCGGCCTGGGCGCTCCGGAACACTCGGTGATG       c.420
 E  H  I  S  P  T  L  S  V  S  G  L  G  A  P  E  H  S  V  M         p.140

          .         .         .         .         .         .       g.5884
 CCCGCACAGATCCATCCACACCACCTGGGCGCCATGGGCCACCTGCACCAGGCCATGGGC       c.480
 P  A  Q  I  H  P  H  H  L  G  A  M  G  H  L  H  Q  A  M  G         p.160

          .         .         .         .         .         .       g.5944
 ATGAGTCACCCGCACACCGTGGCCCCTCATAGCGCCATGCCTGCATGCCTCAGCGACGTG       c.540
 M  S  H  P  H  T  V  A  P  H  S  A  M  P  A  C  L  S  D  V         p.180

          .         .         .         .         .         .       g.6004
 GAGTCAGACCCGCGCGAGCTGGAAGCCTTCGCCGAGCGCTTCAAGCAGCGGCGCATCAAG       c.600
 E  S  D  P  R  E  L  E  A  F  A  E  R  F  K  Q  R  R  I  K         p.200

          .         .         .         .         .         .       g.6064
 CTGGGGGTGACCCAGGCGGACGTGGGCGCGGCTCTGGCTAATCTCAAGATCCCCGGCGTG       c.660
 L  G  V  T  Q  A  D  V  G  A  A  L  A  N  L  K  I  P  G  V         p.220

          .         .         .         .         .         .       g.6124
 GGCTCGCTGAGCCAAAGCACCATCTGCAGGTTCGAGTCTCTCACTCTCTCGCACAACAAC       c.720
 G  S  L  S  Q  S  T  I  C  R  F  E  S  L  T  L  S  H  N  N         p.240

          .         .         .         .         .         .       g.6184
 ATGATCGCTCTCAAGCCGGTGCTCCAGGCCTGGTTGGAGGAGGCCGAGGCCGCCTACCGA       c.780
 M  I  A  L  K  P  V  L  Q  A  W  L  E  E  A  E  A  A  Y  R         p.260

          .         .         .         .         .         .       g.6244
 GAGAAGAACAGCAAGCCAGAGCTCTTCAACGGCAGCGAACGGAAGCGCAAACGCACGTCC       c.840
 E  K  N  S  K  P  E  L  F  N  G  S  E  R  K  R  K  R  T  S         p.280

          .         .         .         .         .         .       g.6304
 ATCGCGGCGCCGGAGAAGCGTTCACTCGAGGCCTATTTCGCTATCCAGCCACGTCCTTCA       c.900
 I  A  A  P  E  K  R  S  L  E  A  Y  F  A  I  Q  P  R  P  S         p.300

          .         .         .         .         .         .       g.6364
 TCTGAGAAGATCGCGGCCATCGCTGAGAAACTGGACCTTAAAAAGAACGTGGTGAGAGTC       c.960
 S  E  K  I  A  A  I  A  E  K  L  D  L  K  K  N  V  V  R  V         p.320

          .         .         .         .         .                 g.6421
 TGGTTCTGCAACCAGAGACAGAAACAGAAACGAATGAAGTATTCGGCTGTCCACTGA          c.1017
 W  F  C  N  Q  R  Q  K  Q  K  R  M  K  Y  S  A  V  H  X            p.338

          .         .         .         .         .         .       g.6481
 ttgcggcagggcgcagcgtcgggagccgggagagcctagtgctcatccctcccgggttcg       c.*60

          .                                                         g.6497
 ggggatggttatcggg                                                   c.*76

 (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 4 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.