periaxin (PRX) - coding DNA reference sequence

(used for variant description)

(last modified December 28, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_020956.2 in the PRX gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007979.1, covering PRX transcript NM_020956.2.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .        | 02    g.9983
                                gctctcgaggtgtctggaggctcagcg | ag    c.-241

 .         .         .         .         .  | 03      .             g.10126
 cgccggacccaggaggcccaaggagctggaggtgaccctcag | gcagcaagaaccccacgg    c.-181

 .         .         .         .         .         .                g.10186
 aagggcgtgagccctgcagacagctgtgcggcacctcgggctgggctcctgttaggagga       c.-121

 .         .         . | 04       .         .         .             g.10372
 agtgcctgcacccaggcagcg | gctcagaggcagctgctccatgcagaactgaagctggtt    c.-61

 .         .         .         .         .         .                g.10432
 ctgcagcagaaaggggagaggacacaggagcctggggtgcaggtgcctcccagcaacgcc       c.-1

          .         .        | 05.         .         .         .    g.14535
 ATGGAGGCCAGGAGCCGGAGTGCCGAG | GAGCTGAGGCGGGCGGAGTTGGTGGAAATTATC    c.60
 M  E  A  R  S  R  S  A  E   | E  L  R  R  A  E  L  V  E  I  I      p.20

          .         .         .         .         .         .       g.14595
 GTGGAGACGGAGGCGCAGACCGGGGTCAGCGGCATCAACGTAGCGGGCGGCGGCAAAGAG       c.120
 V  E  T  E  A  Q  T  G  V  S  G  I  N  V  A  G  G  G  K  E         p.40

          .         .         .         .         .         .       g.14655
 GGAATCTTCGTTCGGGAGCTGCGCGAGGACTCACCCGCCGCCAGGAGCCTCAGCCTGCAG       c.180
 G  I  F  V  R  E  L  R  E  D  S  P  A  A  R  S  L  S  L  Q         p.60

      | 06   .         .         .         .         .         .    g.19604
 GAAG | GGGACCAGCTGCTGAGTGCCCGAGTGTTCTTCGAGAACTTCAAGTACGAGGACGCA    c.240
 E  G |   D  Q  L  L  S  A  R  V  F  F  E  N  F  K  Y  E  D  A      p.80

          .         .         .         .         .         .       g.19664
 CTACGCCTGCTGCAATGCGCCGAGCCTTACAAAGTCTCCTTCTGCCTGAAGCGCACTGTG       c.300
 L  R  L  L  Q  C  A  E  P  Y  K  V  S  F  C  L  K  R  T  V         p.100

          .         .         .         .         .         .       g.19724
 CCCACCGGGGACCTGGCTCTGCGGCCCGGGACCGTGTCTGGCTACGAGATCAAGGGCCCG       c.360
 P  T  G  D  L  A  L  R  P  G  T  V  S  G  Y  E  I  K  G  P         p.120

          .         .         .         .         .         .       g.19784
 CGGGCCAAGGTGGCCAAGCTGGTACGCGTGCTTAGCCCGGCCCCGGCCCTGGACTGCCCC       c.420
 R  A  K  V  A  K  L  V  R  V  L  S  P  A  P  A  L  D  C  P         p.140

          .         .                                               g.19808
 AGCGATCCGGTCTCTGCGCCGTGA                                           c.444
 S  D  P  V  S  A  P  X                                             p.147

          .         .         .         .         .         .       g.19868
 gccccattccccgccatcgtgggccagccttgccctctgtcttgtcactaacccaagcta       c.*60

          .         .         .         .         .         .       g.19928
 attccaccctctgccccttcctctctgccccaaactcttccccgggaagggggacagacc       c.*120

          .         .         .         .         .         .       g.19988
 caccccagcccagggccctcacccacctcggagaggcgtccccaccatcggatccaggct       c.*180

          .         .         .         .         .         .       g.20048
 tgctaggggtcctgaaccaggctacttcgaaccaggaaagccagattccagcctgagtgc       c.*240

          .         .         .         .         .         .       g.20108
 tggcccaattactgctgagtggccctggacaaagttgtttctctccctgggcctcagttt       c.*300

          .         .         .         .         .         .       g.20168
 ccccatctctagaatgaggatgttggggaaaatcccggatcaggatctagaagtcttggg       c.*360

          .         .         .         .         .         .       g.20228
 tccccgtccctacactcctgttgactcatttggagatcctagatggctgcctgctttcct       c.*420

          .         .         .         .         .         .       g.20288
 gggcactcatggtgaaatgacaggcaagaagtggggatgatgtttggggaacaagatact       c.*480

          .         .         .         .         .         .       g.20348
 tgacccagcacatcccccgcctggtccaataccaggtggggctcttcctgtccactccca       c.*540

          .         .         .         .         .         .       g.20408
 gcctcccactgtcccaccgcctcctgcctctctcctctctccccagaacatccagagtct       c.*600

          .         .         .         .         .         .       g.20468
 gtcccctgtgaagaagaagaagatggtgcctggggctctgggggtccccgctgacctggc       c.*660

          .         .         .         .         .         .       g.20528
 ccctgttgacgtcgagttctcctttcccaagttctcccgcctgcgtcggggcctcaaagc       c.*720

          .         .         .         .         .         .       g.20588
 cgaggctgtcaagggtcctgtcccggctgcccctgcccgccggcgcctccagctgcctcg       c.*780

          .         .         .         .         .         .       g.20648
 gctgcgtgtacgagaagtggccgaagaggctcaggcagcccggctggccgccgccgctcc       c.*840

          .         .         .         .         .         .       g.20708
 tccccccaggaaagccaaggtggaggctgaggtggctgcaggagctcgtttcacagcccc       c.*900

          .         .         .         .         .         .       g.20768
 tcaggtggagctggttgggccgcggctgccaggggcggaggtgggtgtcccccaggtctc       c.*960

          .         .         .         .         .         .       g.20828
 agcccccaaggctgccccctcagcagaggcagctggtggctttgccctccacctgccaac       c.*1020

          .         .         .         .         .         .       g.20888
 ccttgggctcggagccccggctccgcctgctgtggaggccccagccgtgggaatccaggt       c.*1080

          .         .         .         .         .         .       g.20948
 cccccaggtggagctgcctgccttgccctcactgcccactctgcccacacttccctgcct       c.*1140

          .         .         .         .         .         .       g.21008
 agagacccgggaaggggctgtgtcggtagtggtgcccaccctggatgtggcagcaccgac       c.*1200

          .         .         .         .         .         .       g.21068
 tgtgggggtggacctggccttgccgggtgcagaggtggaggcccggggagaggcacctga       c.*1260

          .         .         .         .         .         .       g.21128
 ggtggccctgaagatgccccgccttagttttccccgatttggggctcgagcaaaggaagt       c.*1320

          .         .         .         .         .         .       g.21188
 tgctgaggccaaggtagccaaggtcagccctgaggccagggtgaaaggtcccagacttcg       c.*1380

          .         .         .         .         .         .       g.21248
 aatgcccacctttgggctttccctcttggagccccggcccgctgctcctgaagttgtaga       c.*1440

          .         .         .         .         .         .       g.21308
 gagcaagctgaagctgcccaccatcaagatgccctcccttggcatcggagtgtcagggcc       c.*1500

          .         .         .         .         .         .       g.21368
 cgaggtcaaggtgcccaagggacctgaagtgaagctccccaaggctcctgaggtcaagct       c.*1560

          .         .         .         .         .         .       g.21428
 tccaaaagtgcccgaggcagcccttccagaggttcgactcccagaggtggagctccccaa       c.*1620

          .         .         .         .         .         .       g.21488
 ggtgtcagagatgaaactcccaaaggtgccagagatggctgtgccggaggtgcggcttcc       c.*1680

          .         .         .         .         .         .       g.21548
 agaggtagagctgcccaaagtgtcagagatgaaactcccaaaggtgccagagatggctgt       c.*1740

          .         .         .         .         .         .       g.21608
 gccggaggtgcggcttccagaggtacagctgctgaaagtgtcggagatgaaactcccaaa       c.*1800

          .         .         .         .         .         .       g.21668
 ggtgccagagatggctgtgccggaggtgcggcttccagaggtacagctgccgaaagtgtc       c.*1860

          .         .         .         .         .         .       g.21728
 agagatgaaactcccagaggtgtcagaggtggctgtgccagaggtgcggcttccagaggt       c.*1920

          .         .         .         .         .         .       g.21788
 gcagctgccgaaagtgccagagatgaaagtccctgagatgaagcttccaaaggtgcctga       c.*1980

          .         .         .         .         .         .       g.21848
 gatgaaacttcctgagatgaaactccctgaagtgcaactcccgaaggtgcccgagatggc       c.*2040

          .         .         .         .         .         .       g.21908
 cgtgcccgatgtgcacctcccagaagtgcagcttccaaaagtcccagagatgaagctccc       c.*2100

          .         .         .         .         .         .       g.21968
 tgagatgaaactccctgaggtgaaactcccgaaggtgcccgagatggctgtgcccgatgt       c.*2160

          .         .         .         .         .         .       g.22028
 gcacctcccggaagtgcagctcccgaaagtcccagagatgaaactccctaaaatgcctga       c.*2220

          .         .         .         .         .         .       g.22088
 gatggctgtgccagaggttcgactccccgaggtgcagctgccaaaagtctcagagatgaa       c.*2280

          .         .         .         .         .         .       g.22148
 actccccaaggtgcctgaaatggccgtgcccgatgtgcacctcccagaggtgcagctgcc       c.*2340

          .         .         .         .         .         .       g.22208
 caaagtctgtgaaatgaaagtccctgacatgaagctcccagagataaaactccccaaggt       c.*2400

          .         .         .         .         .         .       g.22268
 gcctgagatggctgtgcccgatgtgcacctccccgaggtgcagctgccgaaagtgtcaga       c.*2460

          .         .         .         .         .         .       g.22328
 gattcggctgccggaaatgcaagtgccgaaggttcccgacgtgcatcttccgaaggcacc       c.*2520

          .         .         .         .         .         .       g.22388
 agaggtgaagctgcccagggctccggaggtgcagctaaaggccaccaaggcagaacaggc       c.*2580

          .         .         .         .         .         .       g.22448
 agaagggatggaatttggcttcaagatgcccaagatgaccatgcccaagctagggagggc       c.*2640

          .         .         .         .         .         .       g.22508
 agagtccccatcacgtggcaagccaggcgaggcgggtgctgaggtctcagggaagctggt       c.*2700

          .         .         .         .         .         .       g.22568
 aacacttccctgtctgcagccagaggtggatggtgaggctcatgtgggtgtcccctctct       c.*2760

          .         .         .         .         .         .       g.22628
 cactctgccttcagtggagctagacctgccaggagcacttggcctgcaggggcaggtccc       c.*2820

          .         .         .         .         .         .       g.22688
 agccgctaaaatgggcaagggagagcgggtggagggccctgaggtggcagcaggggtcag       c.*2880

          .         .         .         .         .         .       g.22748
 ggaagtgggcttccgagtgccctctgttgaaattgtcaccccacagctgcccgccgtgga       c.*2940

          .         .         .         .         .         .       g.22808
 aattgaggaagggcggctggagatgatagagacaaaagtcaagccctcttccaagttctc       c.*3000

          .         .         .         .         .         .       g.22868
 cttacctaagtttggactctcggggccaaaggtggctaaggcagaggctgagggggctgg       c.*3060

          .         .         .         .         .         .       g.22928
 gcgagctaccaagctgaaggtatccaaatttgccatctcactccccaaggctcgggtggg       c.*3120

          .         .         .         .         .         .       g.22988
 ggctgaggctgaggccaaaggggctggggaggcaggcctgctgcctgccctcgatctgtc       c.*3180

          .         .         .         .         .         .       g.23048
 catcccacagctcagcctggatgcccacctgccctcaggcaaggtagaggtggcaggggc       c.*3240

          .         .         .         .         .         .       g.23108
 cgacctcaagttcaaggggcccaggtttgctctccccaagtttggggtcagaggccggga       c.*3300

          .         .         .         .         .         .       g.23168
 cactgaggcagcagaactagtgccaggggtggctgagttggagggcaagggctggggctg       c.*3360

          .         .         .         .         .         .       g.23228
 ggatgggagggtgaagatgcccaagctgaagatgccttcctttgggctggctcgagggaa       c.*3420

          .         .         .         .         .         .       g.23288
 ggaagcagaagttcaaggtgatcgtgccagcccgggggaaaaggctgagtccaccgctgt       c.*3480

          .         .         .         .         .         .       g.23348
 gcagcttaagatccccgaggtggagctggtcacgctgggcgcccaggaggaagggagggc       c.*3540

          .         .         .         .         .         .       g.23408
 agagggggctgtggccgtcagtggaatgcagctgtcaggcctgaaggtgtccacagccgg       c.*3600

          .         .         .         .         .         .       g.23468
 gcaggtggtcactgagggccatgacgcggggctgaggatgcctccgctgggcatctccct       c.*3660

          .         .         .         .         .         .       g.23528
 gccacaggtggagctgaccggctttggggaggcaggtaccccagggcagcaggctcagag       c.*3720

          .         .         .         .         .         .       g.23588
 tacagtcccttcagcagagggcacagcaggctacagggttcaggtgccccaggtgaccct       c.*3780

          .         .         .         .         .         .       g.23648
 gtctctgcctggagcccaggttgcaggtggtgagctgctggtgggtgagggtgtctttaa       c.*3840

          .         .         .         .         .         .       g.23708
 gatgcccaccgtgacagtgccccagcttgagctggacgtggggctaagccgagaggcaca       c.*3900

          .         .         .         .         .         .       g.23768
 ggcgggcgaggcggccacaggcgagggtgggctgaggctgaagttgcccacactgggggc       c.*3960

          .         .         .         .         .         .       g.23828
 cagagctagggtggggggcgagggtgctgaggagcagcccccaggggccgagcgtacctt       c.*4020

          .         .         .         .         .         .       g.23888
 ctgcctctcactgcccgacgtggagctctcgccatccgggggcaaccatgccgagtacca       c.*4080

          .         .         .         .         .         .       g.23948
 ggtggcagagggggagggagaggccggacacaagctcaaggtacggctgccccggtttgg       c.*4140

          .         .         .         .         .         .       g.24008
 cctggtgcgggccaaggagggggccgaggagggtgagaaggccaagagccccaaactcag       c.*4200

          .         .         .         .         .         .       g.24068
 gctgccccgagtgggcttcagccaaagtgagatggtcactggggaagggtcccccagccc       c.*4260

          .         .         .         .         .         .       g.24128
 cgaggaggaggaggaggaggaggaagagggcagtggggaaggggcctcgggtcgccgggg       c.*4320

          .         .         .         .         .         .       g.24188
 ccgggtccgggtccgcttgccacgtgtaggcctggcggccccttctaaagcctctcgggg       c.*4380

          .         .         .         .         .         .       g.24248
 gcaggagggcgatgcagcccccaagtcccccgtcagagagaagtcacccaagttccgctt       c.*4440

          .         .         .         .         .         .       g.24308
 ccccagggtgtccctaagccccaaggcccggagtgggagtggggaccaggaagagggtgg       c.*4500

          .         .         .         .         .         .       g.24368
 attgcgggtgcggctgcccagcgtggggttttcagagacaggggctccaggcccggccag       c.*4560

          .         .         .         .         .         .       g.24428
 gatggagggggctcaggctgcggctgtctgaagcccctagtcagatggggatcccttctt       c.*4620

          .         .         .         .         .         .       g.24488
 gccttcctttctctaccccctcgctgttgtgtgtgtgataactagcactaaccctaagag       c.*4680

          .         .         .         .         .         .       g.24548
 ggccgggaggtgggtgactgaccagggctggcagggaggcctgctcctgtctctctggca       c.*4740

          .         .         .         .         .                 g.24601
 ggagtgcctgtaccccaccaagccatgtgaataaaataatctggaagtagcca              c.*4793

 (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 Periaxin 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.