PolyA binding protein, nuclear 1 (PABPN1) - coding DNA reference sequence

(used for mutation description)

(last modified January 7, 2011)


This file was created to facilitate the description of sequence variants in the PABPN1 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008239.1, covering PABPN1 transcript NM_004643.3.

Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.5022
                                       aatgaagggtggcacccaaatc       c.-1261

 .         .         .         .         .         .                g.5082
 cccaatcaatgcctgttcaatcaacaaacatctaacaggacattatgtggtaggcatatt       c.-1201

 .         .         .         .         .         .                g.5142
 gccaggccgtggagatgcgaatataaataggaaccggcccctcatctgcaggcgctcaca       c.-1141

 .         .         .         .         .         .                g.5202
 acctagttaggaaacagtaaaacaattaagcgcgccgtggagataggcccacttgtcctg       c.-1081

 .         .         .         .         .         .                g.5262
 ggaaatgaggggaagctggggtttgcagtggtttgattgaagggggactacatgttagag       c.-1021

 .         .         .         .         .         .                g.5322
 gcacagactgggtgcaggtacacccaaaggaacgagaagagtggaaggaaacaacatcca       c.-961

 .         .         .         .         .         .                g.5382
 caaagtaaccacatgctggcgtatcgaaggccgtgatttacggttttgagactttacctc       c.-901

 .         .         .         .         .         .                g.5442
 gccagcaaaggggggccagtctgttagcggtgcagattggaggggtgacattggaagctg       c.-841

 .         .         .         .         .         .                g.5502
 tccaggaaaaagaaaatggaactggggagcagaaggcctacgcaagagggcgggacagac       c.-781

 .         .         .         .         .         .                g.5562
 aggacttgtgactagtagctctggactgaggaatcctccctgctttctggtgcgggagag       c.-721

 .         .         .         .         .         .                g.5622
 ctagtggatgatggtgccaataacctggatggggaaagtaagctccctcctggaatgctt       c.-661

 .         .         .         .         .         .                g.5682
 cattcacaacctccattttcagcaacatcccatctactggtgcttcctggtcgagataca       c.-601

 .         .         .         .         .         .                g.5742
 agtttcctgaaactgctgctctgttttgggcctcacccggccaacagctcactagctggc       c.-541

 .         .         .         .         .         .                g.5802
 aagcagtagtatcaagatggcggccccctaggactggctagtcatgtgacctcgggtttc       c.-481

 .         .         .         .         .         .                g.5862
 ccaagtttgaagcccggcagtcctttcgggggcaaggttcacctgtcacgaaacgagtgt       c.-421

 .         .         .         .         .         .                g.5922
 caccccttcgactctcgcaagccaatcggcatctgagactgggccactgcggtgaggcga       c.-361

 .         .         .         .         .         .                g.5982
 tcggaagattggtcctttccagtcgcctagctagggccaatcacggagcgtcccatactt       c.-301

 .         .         .         .         .         .                g.6042
 cgcgggcccgcccgtaggccggggagaagcaggaatatcgtcacagcgtggcggtattat       c.-241

 .         .         .         .         .         .                g.6102
 tacctaaggactcgataggaggtgggacgcgtgttgattgacaggcagatttcccctacc       c.-181

 .         .         .         .         .         .                g.6162
 gggatttgagaatttggcgcagtgccccgccttagaggtggggccttatttgattgccaa       c.-121

 .         .         .         .         .         .                g.6222
 gtaatattccccaatggagtactagctcatggtgacgggcaggcagcttgactaatgagt       c.-61

 .         .         .         .         .         .                g.6282
 cctcggcgtggccggcgcagctctccaatcgccgggcggcgggccccagtctgagcggcg       c.-1

          .         .         .         .         .         .       g.6342
 ATGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCGGGGGCTGCGGGCGGTCGGGGCTCCGGG       c.60
 M  A  A  A  A  A  A  A  A  A  A  G  A  A  G  G  R  G  S  G         p.20

          .         .         .         .         .         .       g.6402
 CCGGGGCGGCGGCGCCATCTTGTGCCCGGGGCCGGTGGGGAGGCCGGGGAGGGGGCCCCG       c.120
 P  G  R  R  R  H  L  V  P  G  A  G  G  E  A  G  E  G  A  P         p.40

          .         .         .         .         .         .       g.6462
 GGGGGCGCAGGGGACTACGGGAACGGCCTGGAGTCTGAGGAACTGGAGCCTGAGGAGCTG       c.180
 G  G  A  G  D  Y  G  N  G  L  E  S  E  E  L  E  P  E  E  L         p.60

          .         .         .         .         .         .       g.6522
 CTGCTGGAGCCCGAGCCGGAGCCCGAGCCCGAAGAGGAGCCGCCCCGGCCCCGCGCCCCC       c.240
 L  L  E  P  E  P  E  P  E  P  E  E  E  P  P  R  P  R  A  P         p.80

          .         .         .         .         .         .       g.6582
 CCGGGAGCTCCGGGCCCTGGGCCTGGTTCGGGAGCCCCCGGCAGCCAAGAGGAGGAGGAG       c.300
 P  G  A  P  G  P  G  P  G  S  G  A  P  G  S  Q  E  E  E  E         p.100

          .         .         .         .         .  | 02      .    g.7002
 GAGCCGGGACTGGTCGAGGGTGACCCGGGGGACGGCGCCATTGAGGACCCG | GAGCTGGAA    c.360
 E  P  G  L  V  E  G  D  P  G  D  G  A  I  E  D  P   | E  L  E      p.120

          .         .         .         .         .         .       g.7062
 GCTATCAAAGCTCGAGTCAGGGAGATGGAGGAAGAAGCTGAGAAGCTAAAGGAGCTACAG       c.420
 A  I  K  A  R  V  R  E  M  E  E  E  A  E  K  L  K  E  L  Q         p.140

          .         .         .         .       | 03 .         .    g.7825
 AACGAGGTAGAGAAGCAGATGAATATGAGTCCACCTCCAGGCAATG | CTGGCCCGGTGATC    c.480
 N  E  V  E  K  Q  M  N  M  S  P  P  P  G  N  A |   G  P  V  I      p.160

          .         .         .         .         .     | 04   .    g.8195
 ATGTCCATTGAGGAGAAGATGGAGGCTGATGCCCGTTCCATCTATGTTGGCAAT | GTGGAC    c.540
 M  S  I  E  E  K  M  E  A  D  A  R  S  I  Y  V  G  N   | V  D      p.180

          .         .         .         .         .         .       g.8255
 TATGGTGCAACAGCAGAAGAGCTGGAAGCTCACTTTCATGGCTGTGGTTCAGTCAACCGT       c.600
 Y  G  A  T  A  E  E  L  E  A  H  F  H  G  C  G  S  V  N  R         p.200

          .         .         .         .  | 05      .         .    g.8796
 GTTACCATACTGTGTGACAAATTTAGTGGCCATCCCAAAGG | GTTTGCGTATATAGAGTTC    c.660
 V  T  I  L  C  D  K  F  S  G  H  P  K  G  |  F  A  Y  I  E  F      p.220

          .         .         .         .         .         .       g.8856
 TCAGACAAAGAGTCAGTGAGGACTTCCTTGGCCTTAGATGAGTCCCTATTTAGAGGAAGG       c.720
 S  D  K  E  S  V  R  T  S  L  A  L  D  E  S  L  F  R  G  R         p.240

           | 06        .         .         .         .         .    g.9001
 CAAATCAAG | GTGATCCCAAAACGAACCAACAGACCAGGCATCAGCACAACAGACCGGGGT    c.780
 Q  I  K   | V  I  P  K  R  T  N  R  P  G  I  S  T  T  D  R  G      p.260

          .         .         .         .         .         .       g.9061
 TTTCCACGAGCCCGCTACCGCGCCCGGACCACCAACTACAACAGCTCCCGCTCTCGATTC       c.840
 F  P  R  A  R  Y  R  A  R  T  T  N  Y  N  S  S  R  S  R  F         p.280

          .         .         .         .  | 07      .         .    g.10078
 TACAGTGGTTTTAACAGCAGGCCCCGGGGTCGCGTCTACAG | GGGCCGGGCTAGAGCGACA    c.900
 Y  S  G  F  N  S  R  P  R  G  R  V  Y  R  |  G  R  A  R  A  T      p.300

          .         .                                               g.10099
 TCATGGTATTCCCCTTACTAA                                              c.921
 S  W  Y  S  P  Y  X                                                p.306

          .         .         .         .         .         .       g.10159
 aaaaagtgtgtattaggaggagagagaggaaaaaaagaggaaagaaggaaaaaaaaaaga       c.*60

          .         .         .         .         .         .       g.10219
 attaaaaaaaaaaaaaagaaaaacagaagatgaccttgatggaaaaaaaatattttttaa       c.*120

          .         .         .         .         .         .       g.10279
 aaaaaagatatactgtggaaggggggagaatcccataactaactgctgaggagggacctg       c.*180

          .         .         .         .         .         .       g.10339
 ctttggggagtaggggaaggcccagggagtggggcagggggctgcttattcactctgggg       c.*240

          .         .         .         .         .         .       g.10399
 attcgccatggacacgtctcaactgcgcaagctgctgcccatgtttccctgccccacttc       c.*300

          .         .         .         .         .         .       g.10459
 acccccttgggggctgctcaagggtaggtgggcgtgggtggtaggaggttttttttttta       c.*360

          .         .         .         .         .         .       g.10519
 cccagggctctggaaggacaccaaactgttctgcttgttaccttccctccgtcttctcct       c.*420

          .         .         .         .         .         .       g.10579
 cgcctttcacagtcccctcctgcctgctcctgtccagccaggtctaccacccaccccacc       c.*480

          .         .         .         .         .         .       g.10639
 cctcttctccggctccctgcccctccagattgcctggtgatctattttgtttccttttgt       c.*540

          .         .         .         .         .         .       g.10699
 gtttctttttctgttttgagtgtctttctttgcaggtttctgtagccggaagatctccgt       c.*600

          .         .         .         .         .         .       g.10759
 tccgctcccagcggctccagtgtaaattccccttccccctggggaaatgcactaccttgt       c.*660

          .         .         .         .         .         .       g.10819
 tttggggggtttaggggtgtttttgtttttcagttgttttgtttttttgttttttttttt       c.*720

          .         .         .         .         .         .       g.10879
 tttcctttgccttttttcccttttatttggagggaatgggaggaagtgggaacagggagg       c.*780

          .         .         .         .         .         .       g.10939
 tgggaggtggattttgtttatttttttagctcatttccaggggtgggaatttttttttaa       c.*840

          .         .         .         .         .                 g.10998
 tatgtgtcatgaataaagttgtttttgaaaataaaaattgtttggccttttgggtgtaa        c.*899

 (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 10th nucleotide is indicated by a "." above the sequence. The PolyA binding protein, nuclear 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 10th 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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