peroxisomal biogenesis factor 14 (PEX14) - coding DNA reference sequence

(used for variant description)

(last modified September 25, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_004565.2 in the PEX14 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008340.1, covering PEX14 transcript NM_004565.2.

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

 (upstream sequence)
                                         .         .                g.5021
                                        gattagtcaggcctcagaaag       c.-1

          .         .         .       | 02 .         .         .    g.25352
 ATGGCGTCCTCGGAGCAGGCAGAGCAGCCGAGCCAG | CCAAGCTCTACTCCAGGAAGTGAA    c.60
 M  A  S  S  E  Q  A  E  Q  P  S  Q   | P  S  S  T  P  G  S  E      p.20

          .         .     | 03   .         .         .         .    g.66303
 AATGTGCTGCCTCGAGAGCCGCTG | ATTGCCACGGCAGTGAAGTTTCTACAGAATTCCCGG    c.120
 N  V  L  P  R  E  P  L   | I  A  T  A  V  K  F  L  Q  N  S  R      p.40

          .         .         .         .          | 04        .    g.129303
 GTCCGCCAGAGCCCACTTGCAACCAGGAGAGCATTCCTAAAGAAGAAAG | GGCTGACAGAT    c.180
 V  R  Q  S  P  L  A  T  R  R  A  F  L  K  K  K  G |   L  T  D      p.60

          .         .         .         .         .         .       g.129363
 GAAGAGATTGATATGGCCTTCCAGCAGTCGGGCACTGCTGCCGATGAGCCTTCGTCCTTG       c.240
 E  E  I  D  M  A  F  Q  Q  S  G  T  A  A  D  E  P  S  S  L         p.80

          .         .         .         .         .         | 05    g.148388
 GGCCCAGCCACACAGGTGGTTCCTGTCCAGCCCCCTCACCTCATATCTCAGCCATACA | GT    c.300
 G  P  A  T  Q  V  V  P  V  Q  P  P  H  L  I  S  Q  P  Y  S |       p.100

          .         .         .         .         .         .       g.148448
 CCCGCAGGCTCCCGATGGCGAGATTACGGCGCCCTGGCCATCATCATGGCAGGCATTGCA       c.360
 P  A  G  S  R  W  R  D  Y  G  A  L  A  I  I  M  A  G  I  A         p.120

          .         .     | 06   .         .         .         .    g.153109
 TTTGGCTTTCACCAGCTCTACAAG | AAATACCTGCTCCCCCTCATCCTGGGCGGCCGAGAG    c.420
 F  G  F  H  Q  L  Y  K   | K  Y  L  L  P  L  I  L  G  G  R  E      p.140

          .         .         .         .         .         .       g.153169
 GACAGAAAGCAGCTGGAGAGGATGGAGGCCGGTCTCTCTGAGCTGAGTGGCAGCGTGGCC       c.480
 D  R  K  Q  L  E  R  M  E  A  G  L  S  E  L  S  G  S  V  A         p.160

         | 07.         .         .         .         .         .    g.154447
 CAGACAG | TGACTCAGTTACAGACGACCCTCGCCTCCGTCCAGGAGCTGCTGATTCAGCAG    c.540
 Q  T  V |   T  Q  L  Q  T  T  L  A  S  V  Q  E  L  L  I  Q  Q      p.180

          .         .         .         .      | 08  .         .    g.157341
 CAGCAGAAGATCCAGGAGCTTGCCCACGAGCTGGCCGCTGCCAAG | GCCACCACATCCACC    c.600
 Q  Q  K  I  Q  E  L  A  H  E  L  A  A  A  K   | A  T  T  S  T      p.200

          .         .         .         .         .         .       g.157401
 AACTGGATCCTGGAGTCCCAGAATATCAACGAACTCAAGTCCGAAATTAACTCCTTGAAA       c.660
 N  W  I  L  E  S  Q  N  I  N  E  L  K  S  E  I  N  S  L  K         p.220

          .        | 09.         .         .         .         .    g.159628
 GGGCTTCTTTTAAATCG | GAGGCAGTTCCCTCCATCCCCATCAGCCCCGAAGATCCCCTCC    c.720
 G  L  L  L  N  R  |  R  Q  F  P  P  S  P  S  A  P  K  I  P  S      p.240

          .         .         .         .         .         .       g.159688
 TGGCAGATCCCAGTCAAGTCACCGTCACCCTCCAGCCCTGCGGCCGTGAACCACCACAGC       c.780
 W  Q  I  P  V  K  S  P  S  P  S  S  P  A  A  V  N  H  H  S         p.260

          .         .         .         .         .         .       g.159748
 AGCAGCGACATCTCACCTGTCAGCAACGAGTCCACGTCGTCCTCGCCTGGGAAGGAGGGC       c.840
 S  S  D  I  S  P  V  S  N  E  S  T  S  S  S  P  G  K  E  G         p.280

          .         .         .         .         .         .       g.159808
 CACAGCCCCGAGGGCTCCACGGTCACCTACCACTTGCTGGGCCCCCAGGAGGAAGGCGAG       c.900
 H  S  P  E  G  S  T  V  T  Y  H  L  L  G  P  Q  E  E  G  E         p.300

          .         .         .         .         .         .       g.159868
 GGGGTGGTGGACGTCAAGGGCCAGGTGCGGATGGAGGTGCAAGGCGAGGAGGAGAAGAGG       c.960
 G  V  V  D  V  K  G  Q  V  R  M  E  V  Q  G  E  E  E  K  R         p.320

          .         .         .         .         .         .       g.159928
 GAGGACAAGGAGGACGAGGAGGATGAGGAGGATGATGATGTGAGCCATGTGGACGAGGAG       c.1020
 E  D  K  E  D  E  E  D  E  E  D  D  D  V  S  H  V  D  E  E         p.340

          .         .         .         .         .         .       g.159988
 GACTGCCTGGGGGTGCAGAGGGAGGACCGCCGGGGCGGGGATGGGCAGATCAACGAGCAG       c.1080
 D  C  L  G  V  Q  R  E  D  R  R  G  G  D  G  Q  I  N  E  Q         p.360

          .         .         .         .         .                 g.160042
 GTGGAGAAGCTGCGGCGGCCCGAGGGCGCCAGCAACGAGAGTGAGCGGGACTAG             c.1134
 V  E  K  L  R  R  P  E  G  A  S  N  E  S  E  R  D  X               p.377

          .         .         .         .         .         .       g.160102
 ggctgcgcctgctgcctccagccctgaggatggcatctagtgtgcccgtgcgtggccata       c.*60

          .         .         .         .         .         .       g.160162
 ccctgcctccctctctggccctgggagggcagcttggagcccaggtagggggcagagctg       c.*120

          .         .         .         .         .         .       g.160222
 tcctcagctgcactgcggcctggtggcagtgtggggagtcacacttctgtccacctggcc       c.*180

          .         .         .         .         .         .       g.160282
 tcctctcgcctggccgccagccccagccccagccccagccccaggcccagctgcctttgg       c.*240

          .         .         .         .         .         .       g.160342
 ctttgatctcaagtcaggctgaaggcagcgaagcctcggggcccaagcccctccccagcc       c.*300

          .         .         .         .         .         .       g.160402
 ccctctcccggacagacgccttgcccagggtgtgtttgctgagtgtcttgactaccgtga       c.*360

          .         .         .         .         .         .       g.160462
 caccacgcatggccagagctagcgtccctactgcctcccgactcctcagtggaggaggag       c.*420

          .         .         .         .         .         .       g.160522
 ctgcggtccctctggtgtctgccatccccctccctccctgggcccggccctggacccgtc       c.*480

          .         .         .         .         .         .       g.160582
 aggtgcctgtccccagccccaaccccactcatgccccgtcgtcctcccagacaaatgaaa       c.*540

          .         .         .         .         .         .       g.160642
 ccacgctgcgcttccgatgcccccgcttgccgtgtaatggttcagctaatcccatggcga       c.*600

          .         .         .         .         .         .       g.160702
 gatgggggctcactccggaggaggagccaggcagcagggccttcctgaccaacagccagc       c.*660

          .         .         .         .         .         .       g.160762
 tctgtccttccccccaggaaacacatgttcatttgtgtgatcatgtatagacctcagaac       c.*720

          .         .         .         .         .                 g.160813
 ggaagataggactgtatataattgtaataaataccagttgccactatttaa                c.*771

 (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 Peroxisomal biogenesis factor 14 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.