polyglutamine binding protein 1 (PQBP1) - coding DNA reference sequence

(used for variant description)

(last modified February 9, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_005710.2 in the PQBP1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_015967.1, covering PQBP1 transcript NM_005710.2.

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

 (upstream sequence)
                                                   .                g.5358
                                               agaggaacagggcc       c.-241

 .         .         .         .         .         .                g.5418
 ctggagcacctggtttcggggacagtagggttggtgggagttgcgatgatattgccacct       c.-181

 .         .         .         .         .         .                g.5478
 acctcttacatcttttagtgcgtatgttctgtccacccagctactggttcatttgagtag       c.-121

 .         .         .         .         .         .                g.5538
 atcggagtcagatgagtacatgtttacgggaggcgcttggttacgggatccagataggaa       c.-61

 .         .         .         .         .         .                g.5598
 tctttatctgagctgcttgtcagtttgttcgtctgtccctaggtctgtctgctatcagct       c.-1

          .         .         .         .         .         .       g.5658
 ATGCCGCTGCCCGTTGCGCTGCAGACCCGCTTGGCCAAGAGAGGCATCCTCAAACATCTG       c.60
 M  P  L  P  V  A  L  Q  T  R  L  A  K  R  G  I  L  K  H  L         p.20

         | 02.         .         .         .         .         .    g.8325
 GAGCCTG | AACCAGAGGAAGAGATCATTGCCGAGGACTATGACGATGATCCTGTGGACTAC    c.120
 E  P  E |   P  E  E  E  I  I  A  E  D  Y  D  D  D  P  V  D  Y      p.40

          .         .         .         .         .          | 03    g.9013
 GAGGCCACCAGGTTGGAGGGCCTACCACCAAGCTGGTACAAGGTGTTCGACCCTTCCTG | C    c.180
 E  A  T  R  L  E  G  L  P  P  S  W  Y  K  V  F  D  P  S  C  |      p.60

          .         .         .         .         .         .       g.9073
 GGGCTCCCTTACTACTGGAATGCAGACACAGACCTTGTATCCTGGCTCTCCCCACATGAC       c.240
 G  L  P  Y  Y  W  N  A  D  T  D  L  V  S  W  L  S  P  H  D         p.80

          .         .         .         .         .   | 04     .    g.9323
 CCCAACTCCGTGGTTACCAAATCGGCCAAGAAGCTCAGAAGCAGTAATGCAG | ATGCTGAA    c.300
 P  N  S  V  V  T  K  S  A  K  K  L  R  S  S  N  A  D |   A  E      p.100

          .         .         .         .         .         .       g.9383
 GAAAAGTTGGACCGGAGCCATGACAAGTCGGACAGGGGCCATGACAAGTCGGACCGCAGC       c.360
 E  K  L  D  R  S  H  D  K  S  D  R  G  H  D  K  S  D  R  S         p.120

          .         .         .         .         .         .       g.9443
 CATGAGAAACTAGACAGGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTCTGACAGG       c.420
 H  E  K  L  D  R  G  H  D  K  S  D  R  G  H  D  K  S  D  R         p.140

          .         .         .         .         .         .       g.9503
 GATCGAGAGCGTGGCTATGACAAGGTAGACAGAGAGAGAGAGCGAGACAGGGAACGGGAT       c.480
 D  R  E  R  G  Y  D  K  V  D  R  E  R  E  R  D  R  E  R  D         p.160

          .         .         .         .         .         .       g.9563
 CGGGACCGCGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAGAACGGCGCCACCATCGC       c.540
 R  D  R  G  Y  D  K  A  D  R  E  E  G  K  E  R  R  H  H  R         p.180

          .         .         .        | 05.         .         .    g.9837
 CGGGAGGAGCTGGCTCCCTATCCCAAGAGCAAGAAGG | CAGTAAGCCGAAAGGATGAAGAG    c.600
 R  E  E  L  A  P  Y  P  K  S  K  K  A |   V  S  R  K  D  E  E      p.200

          .         .         .         .  | 06      .         .    g.10029
 TTAGACCCCATGGACCCTAGCTCATACTCAGACGCCCCCCG | GGGCACGTGGTCAACAGGA    c.660
 L  D  P  M  D  P  S  S  Y  S  D  A  P  R  |  G  T  W  S  T  G      p.220

          .         .         .         .         .         .       g.10089
 CTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTC       c.720
 L  P  K  R  N  E  A  K  T  G  A  D  T  T  A  A  G  P  L  F         p.240

          .         .         .         .         .         .       g.10149
 CAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGA       c.780
 Q  Q  R  P  Y  P  S  P  G  A  V  L  R  A  N  A  E  A  S  R         p.260

          .                                                         g.10167
 ACCAAGCAGCAGGATTGA                                                 c.798
 T  K  Q  Q  D  X                                                   p.265

          .         .         .         .         .                 g.10226
 agcttcggcctccctggccctgggttaaaataaaagctttctggtgatcctgcccacca        c.*59

 (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 Polyglutamine binding protein 1 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.