aprataxin (APTX) - coding DNA reference sequence

(used for variant description)

(last modified November 25, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_175073.2 in the APTX gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012821.1, covering APTX transcript NM_175073.2.

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

 (upstream sequence)
                                                                    g.4992
                                                        gacgt       c.-181

 .         .         .         .         .         .                g.5052
 catcccgcagcgccggaagcggtgaggcacagatgagtaacgtgaatttgtccgtctccg       c.-121

 .          | 02        .         .         .         .             g.9330
 acttctggag | atttattttttttagatgaggtgttgctgtgttgcccaagctggacttga    c.-61

 .         .         .         .         .         .      | 03      g.16737
 acccctaggctcaagcaatccttccacctcagtctcccaagtagcagggactacag | agtg    c.-1

          .         .         .         .         .         .       g.16797
 ATGATGCGGGTGTGCTGGTTGGTGAGACAGGACAGCCGGCACCAGCGAATCAGACTTCCA       c.60
 M  M  R  V  C  W  L  V  R  Q  D  S  R  H  Q  R  I  R  L  P         p.20

          .         .         .         .         .         .       g.16857
 CATTTGGAAGCAGTTGTGATTGGGCGTGGCCCAGAGACCAAGATCACTGATAAGAAATGT       c.120
 H  L  E  A  V  V  I  G  R  G  P  E  T  K  I  T  D  K  K  C         p.40

          .    | 04    .         .         .         .         .    g.18546
 TCTCGACAGCAAG | TACAGTTGAAAGCAGAGTGTAACAAGGGATATGTCAAGGTAAAGCAG    c.180
 S  R  Q  Q  V |   Q  L  K  A  E  C  N  K  G  Y  V  K  V  K  Q      p.60

  | 05       .         .         .         .         .         .    g.18842
  | GTAGGAGTCAATCCCACCAGCATTGACTCAGTCGTAATTGGGAAGGACCAAGAGGTGAAG    c.240
  | V  G  V  N  P  T  S  I  D  S  V  V  I  G  K  D  Q  E  V  K      p.80

          .         .         .         .         .         .       g.18902
 CTGCAGCCTGGCCAGGTTCTCCACATGGTGAATGAACTTTATCCATATATTGTAGAGTTT       c.300
 L  Q  P  G  Q  V  L  H  M  V  N  E  L  Y  P  Y  I  V  E  F         p.100

          .         .         .         .         .         .       g.18962
 GAGGAAGAGGCAAAGAACCCTGGCCTGGAAACACACAGGAAGAGAAAGAGATCAGGCAAC       c.360
 E  E  E  A  K  N  P  G  L  E  T  H  R  K  R  K  R  S  G  N         p.120

          .         .         .         .         .         .       g.19022
 AGTGATTCTATAGAAAGGGATGCTGCTCAGGAAGCTGAGGCTGGGACAGGGCTGGAACCT       c.420
 S  D  S  I  E  R  D  A  A  Q  E  A  E  A  G  T  G  L  E  P         p.140

          .         .         .         .         .         .       g.19082
 GGGAGCAACTCTGGCCAATGCTCTGTGCCCCTAAAGAAGGGAAAAGATGCACCTATCAAA       c.480
 G  S  N  S  G  Q  C  S  V  P  L  K  K  G  K  D  A  P  I  K         p.160

     | 06    .         .         .         .         .         .    g.20655
 AAG | GAATCCCTGGGCCACTGGAGTCAAGGCTTGAAGATTTCTATGCAGGACCCCAAAATG    c.540
 K   | E  S  L  G  H  W  S  Q  G  L  K  I  S  M  Q  D  P  K  M      p.180

     | 07    .         .         .         .         .         .    g.21828
 CAG | GTTTACAAAGATGAGCAGGTGGTGGTGATAAAGGATAAATACCCAAAGGCCCGTTAC    c.600
 Q   | V  Y  K  D  E  Q  V  V  V  I  K  D  K  Y  P  K  A  R  Y      p.200

          .         .         .         .         .         .       g.21888
 CATTGGCTGGTCTTACCGTGGACCTCCATTTCCAGTCTGAAGGCTGTGGCCAGGGAACAC       c.660
 H  W  L  V  L  P  W  T  S  I  S  S  L  K  A  V  A  R  E  H         p.220

          .         .         .         .         .         .       g.21948
 CTTGAACTCCTTAAGCATATGCACACTGTGGGGGAAAAGGTGATTGTAGATTTTGCTGGG       c.720
 L  E  L  L  K  H  M  H  T  V  G  E  K  V  I  V  D  F  A  G         p.240

          .         .         .         .         . | 08       .    g.32077
 TCCAGCAAACTCCGCTTCCGATTGGGCTACCACGCCATTCCGAGTATGAG | CCATGTACAT    c.780
 S  S  K  L  R  F  R  L  G  Y  H  A  I  P  S  M  S  |  H  V  H      p.260

          .         .         .         .         .         .       g.32137
 CTTCATGTGATCAGCCAGGATTTTGATTCTCCTTGCCTTAAAAACAAAAAACATTGGAAT       c.840
 L  H  V  I  S  Q  D  F  D  S  P  C  L  K  N  K  K  H  W  N         p.280

          .         .         .     | 09   .         .         .    g.33002
 TCTTTCAATACAGAATACTTCCTAGAATCACAAG | CTGTGATCGAGATGGTACAAGAGGCT    c.900
 S  F  N  T  E  Y  F  L  E  S  Q  A |   V  I  E  M  V  Q  E  A      p.300

          .         .         .         .         .         .       g.33062
 GGTAGAGTAACTGTCCGAGATGGGATGCCTGAGCTCTTGAAGCTGCCCCTTCGTTGTCAT       c.960
 G  R  V  T  V  R  D  G  M  P  E  L  L  K  L  P  L  R  C  H         p.320

          .         .         .         .         .         .       g.33122
 GAGTGCCAGCAGCTGCTGCCTTCCATTCCTCAGCTGAAAGAACATCTCAGGAAGCACTGG       c.1020
 E  C  Q  Q  L  L  P  S  I  P  Q  L  K  E  H  L  R  K  H  W         p.340

                                                                    g.33131
 ACACAGTGA                                                          c.1029
 T  Q  X                                                            p.342

          .         .         .         .         .         .       g.33191
 ttctgcagagcctgagctgctgctgtggtgtggcccactggagcaaactgctggcaccta       c.*60

          .         .         .         .         .         .       g.33251
 ttctgggttgcttgtgaacttctactcatttcctaaattaaaacatgcagctttttcaca       c.*120

          .         .         .         .         .         .       g.33311
 aatttattctattattgagtggccacaatgtagagtggctcaaagtacttcaggattagg       c.*180

          .         .         .         .         .         .       g.33371
 aatttgggtttgtcatagatgtattctctggtgagggtggctgggatatacctgacccac       c.*240

          .         .         .         .         .         .       g.33431
 catcttcagaaggacccatgtcaggtctgaccattgggagcaaagccatgttcacactga       c.*300

          .         .         .         .         .         .       g.33491
 cctaatgcagagtatggaagcattgggctggttatacatttctgtttcttagatttatcc       c.*360

          .         .         .         .         .         .       g.33551
 tccgcctctgtaggcatggacaacctttaatcagagcatctagagtggcctcttgtttat       c.*420

          .         .         .         .         .         .       g.33611
 cctgaagatactgatgggtcttgttttctgttagtctgttttgtaatattcttttccctt       c.*480

          .         .         .         .         .         .       g.33671
 ccttcatggggaggcttagtttgtccagtccttccatgcccttctatcccagattaccta       c.*540

          .         .         .         .         .         .       g.33731
 aatgttcccttctcaggaattctgtctcatcagttcttcacagtgagaaaagaggctaga       c.*600

          .         .         .         .         .         .       g.33791
 tgatggtgtggggggttggagttttcttctaataccgagggttcctggctgtgaggaaac       c.*660

          .         .         .         .         .         .       g.33851
 agccacatgttcgtcatgattgagctgtgaagtcttcttggacctgttgtctgaaaataa       c.*720

          .         .         .         .         .         .       g.33911
 agttaatttgtttgaggcatctctcttaagtaggtggaaactattgaagttcagctaaca       c.*780

          .         .         .         .         .         .       g.33971
 atcacagcataggttctgatgcatggaaaggtggttggtgaatgaaaaagttgcgtagag       c.*840

          .         .         .         .         .                 g.34023
 ccactactttctttttccctgagaataaatttggataaaacagttgtattca               c.*892

 (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 Aprataxin 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.