peroxisomal biogenesis factor 2 (PEX2) - coding DNA reference sequence

(used for variant description)

(last modified September 7, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_000318.2 in the PEX2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008371.1, covering PEX2 transcript NM_000318.2.

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

 (upstream sequence)
                               .         .         .                g.5794
                       aaccggccaatcaccgcgcgcgggtgtccgcttcggct       c.-421

 .         .         .         .         .         .                g.5854
 tttcggcccttcggctcttcggcttgtcggcgttcgcggttgtttggccatccagtgcct       c.-361

 .         .         .         .         .         .                g.5914
 tcagcagcgccgctaaagcgcagttctcgttggtgtaactttttcttttttttttcagcc       c.-301

 .         .         .         .         .         .                g.5974
 acttccggctcctgcgtcgctccggaagcctgcgagttccggaagccttggtaatccaga       c.-241

 .         .         .         .         .         .                g.6034
 ttcggctaggaaaagacaagctttccagagaatgtttcagagaaagttacgtggagcgtg       c.-181

 .         .         . | 02       .         .         .   | 03      g.19755
 ggcgtttcgcagactcctaag | tggtctggaacctaacctgcagtgtctctgag | cttctgg c.-121

 .         .         .         .         .         .                g.19815
 caagtatgaggcaaggatttcacagaagaacttggagcaaaaattcccactgtcatagct       c.-61

 .         .         .         .         .   | 04     .             g.21866
 ataggctgtccagtcttgagggagctgcaggaacaggaaaaag | agaccttcagagaagac    c.-1

          .         .         .         .         .         .       g.21926
 ATGGCTTCCAGAAAAGAGAATGCGAAGAGTGCAAACAGAGTGCTAAGAATAAGCCAGTTG       c.60
 M  A  S  R  K  E  N  A  K  S  A  N  R  V  L  R  I  S  Q  L         p.20

          .         .         .         .         .         .       g.21986
 GATGCACTTGAACTAAACAAGGCCCTGGAGCAGCTAGTTTGGTCCCAGTTTACTCAGTGC       c.120
 D  A  L  E  L  N  K  A  L  E  Q  L  V  W  S  Q  F  T  Q  C         p.40

          .         .         .         .         .         .       g.22046
 TTTCATGGATTTAAACCTGGGCTGTTAGCTCGCTTTGAGCCAGAGGTGAAAGCGTGCTTA       c.180
 F  H  G  F  K  P  G  L  L  A  R  F  E  P  E  V  K  A  C  L         p.60

          .         .         .         .         .         .       g.22106
 TGGGTTTTCTTGTGGAGATTCACCATCTACTCCAAAAATGCCACAGTGGGACAGTCAGTT       c.240
 W  V  F  L  W  R  F  T  I  Y  S  K  N  A  T  V  G  Q  S  V         p.80

          .         .         .         .         .         .       g.22166
 TTGAATATTAAGTACAAAAATGATTTTTCCCCTAACCTGAGATATCAGCCACCCAGTAAA       c.300
 L  N  I  K  Y  K  N  D  F  S  P  N  L  R  Y  Q  P  P  S  K         p.100

          .         .         .         .         .         .       g.22226
 AATCAAAAAATCTGGTATGCTGTTTGTACAATTGGTGGCAGGTGGTTAGAAGAACGATGC       c.360
 N  Q  K  I  W  Y  A  V  C  T  I  G  G  R  W  L  E  E  R  C         p.120

          .         .         .         .         .         .       g.22286
 TATGATTTGTTTCGAAACCATCATTTAGCATCATTTGGGAAAGTCAAGCAGTGTGTGAAT       c.420
 Y  D  L  F  R  N  H  H  L  A  S  F  G  K  V  K  Q  C  V  N         p.140

          .         .         .         .         .         .       g.22346
 TTTGTGATTGGACTTTTGAAATTAGGTGGGCTGATTAATTTTTTGATTTTCCTTCAGAGG       c.480
 F  V  I  G  L  L  K  L  G  G  L  I  N  F  L  I  F  L  Q  R         p.160

          .         .         .         .         .         .       g.22406
 GGAAAGTTTGCAACTTTGACAGAACGTCTCCTAGGTATTCATTCTGTATTTTGCAAGCCT       c.540
 G  K  F  A  T  L  T  E  R  L  L  G  I  H  S  V  F  C  K  P         p.180

          .         .         .         .         .         .       g.22466
 CAAAACATATGTGAAGTTGGCTTTGAATACATGAATAGGGAACTTCTCTGGCATGGTTTT       c.600
 Q  N  I  C  E  V  G  F  E  Y  M  N  R  E  L  L  W  H  G  F         p.200

          .         .         .         .         .         .       g.22526
 GCTGAATTTCTGATTTTTCTCTTACCACTTATCAATGTCCAGAAGTTGAAAGCCAAGCTG       c.660
 A  E  F  L  I  F  L  L  P  L  I  N  V  Q  K  L  K  A  K  L         p.220

          .         .         .         .         .         .       g.22586
 TCTTCATGGTGTATTCCTCTTACTGGTGCACCTAATAGTGACAATACATTAGCCACCAGT       c.720
 S  S  W  C  I  P  L  T  G  A  P  N  S  D  N  T  L  A  T  S         p.240

          .         .         .         .         .         .       g.22646
 GGCAAAGAATGCGCTCTATGTGGAGAGTGGCCCACCATGCCTCACACCATAGGATGTGAG       c.780
 G  K  E  C  A  L  C  G  E  W  P  T  M  P  H  T  I  G  C  E         p.260

          .         .         .         .         .         .       g.22706
 CATATTTTCTGTTATTTCTGTGCTAAGAGTAGTTTCTTATTTGACGTGTACTTTACTTGT       c.840
 H  I  F  C  Y  F  C  A  K  S  S  F  L  F  D  V  Y  F  T  C         p.280

          .         .         .         .         .         .       g.22766
 CCTAAGTGTGGCACAGAAGTACACAGTCTGCAGCCACTGAAATCAGGAATCGAGATGTCA       c.900
 P  K  C  G  T  E  V  H  S  L  Q  P  L  K  S  G  I  E  M  S         p.300

          .                                                         g.22784
 GAAGTAAATGCTCTTTAG                                                 c.918
 E  V  N  A  L  X                                                   p.305

          .         .         .         .         .         .       g.22844
 aaactaaaattgcttcctttgaggaaaaaaatgcaccgtgtttaaattcttaatattagt       c.*60

          .         .         .         .         .         .       g.22904
 catcctaagtataccatttatgtatcctttataaggaatgtgctcctagccactgtcttc       c.*120

          .         .         .         .         .         .       g.22964
 tcctttccaggcatgactgaaatctaatcactggaaaccatgtgattctaaatatattat       c.*180

          .         .         .         .         .         .       g.23024
 gtaaatgttaatgtattatgttttttaaatcattgcattcaatttttaatgtcaagaata       c.*240

          .         .         .         .         .         .       g.23084
 atggacagcttttgtcaggtgactactaacaatgctccttcattttactacttcttaaaa       c.*300

          .         .         .         .         .         .       g.23144
 caaggttggattctaaagataaagattttggagactctgggatgagtgtgcatttatttt       c.*360

          .         .         .         .         .         .       g.23204
 cagagttgacataatatgataatgtgacaattatgagactgttttaaaccttaagacctg       c.*420

          .         .         .         .         .         .       g.23264
 atgcctcagttgtaacttttttttttttttctgagacggtgtcctgctctgtcacccagg       c.*480

          .         .         .         .         .         .       g.23324
 ctggagtgcagtggcgcgatctctgctcactgcaacgtccgcctcccgggttcaagcaat       c.*540

          .         .         .         .         .         .       g.23384
 tctcctgcctcagcctcccgagtagctggcactgcaggtgcatgccaccatgcccgggta       c.*600

          .         .         .         .         .         .       g.23444
 atttttgtatttttagtagagatggggttcactgtgttagccaggatggtctctatctcc       c.*660

          .         .         .         .         .         .       g.23504
 tgatctggtgatccacctgcgtcagcctcccaaagtgctgagattacagacgtgagccac       c.*720

          .         .         .         .         .         .       g.23564
 tgtgcttggccgcctcagttgtaatgttatgcttttctctgaagccaatttttaagaagt       c.*780

          .         .         .         .         .         .       g.23624
 tcagtcctcagctgtctgacccctccacagttggctttatattcagaaagtaaaaattac       c.*840

          .         .         .         .         .         .       g.23684
 ttaaggcagcttggaagtgaggcctgggaactactgggggcaactagtatgaacagcact       c.*900

          .         .         .         .         .         .       g.23744
 atttacaggtctctttctcttgcctttgattcagagctgtcattctcagtaaatattgat       c.*960

          .         .         .         .         .         .       g.23804
 agttttattgaaacaaaaggggtctttagcatgggaatagtaacagcagtgcataatcaa       c.*1020

          .         .         .         .         .         .       g.23864
 gataattctgtatccttcactctttttctctgcctttttttacttaaaagtaaattcaga       c.*1080

          .         .         .         .         .         .       g.23924
 ctcttaaaatggtatagaattattagcttgaacattgaattatctcgtcttaactagaat       c.*1140

          .         .         .         .         .         .       g.23984
 gttttttaaaaaacagtttttaaatgtttttaaataaacatcttgctagtatgatggaaa       c.*1200

          .         .         .         .         .         .       g.24044
 tacactgccagttcatttttctcttcacctttcattgaacaagtactcaggtgccaggta       c.*1260

          .         .         .         .         .         .       g.24104
 ctgatgtagccattagaggcacaacagtatattaagcaggaaaaatcaagttaccttcat       c.*1320

          .         .         .         .         .         .       g.24164
 ggagtttacattctgtgattgaatgaactgtaagtttaatttaggttcaatttagtgtaa       c.*1380

          .         .         .         .         .         .       g.24224
 gatactgaagaagttttgtagtttgagttaagagtattttacatcttaagaatttgcctt       c.*1440

          .         .         .         .         .         .       g.24284
 cttttgccttctgtaattttaaaacattattgtagaaaacaccaacaattcaggaaaaaa       c.*1500

          .         .         .         .         .         .       g.24344
 tataaaatcaactttcccacaattttttgagagagatcatcactatattttactatattt       c.*1560

          .         .         .         .         .         .       g.24404
 gtagatttgttgcacgtacatttcttatttacaaaattattataatgcataaaaaatagc       c.*1620

          .         .         .         .         .         .       g.24464
 attttttcctatgtataaatattcttcaaaactattttagggctgagcacaatggctcat       c.*1680

          .         .         .         .         .         .       g.24524
 gcctgtaatcccaggctccctacttagggaggctgagcccaggagtttgagttcgtttct       c.*1740

          .         .         .         .         .         .       g.24584
 aaaaaaataaaaatatatacaaacgtctttgttttttgtttgtttgtttgtttttggtga       c.*1800

          .         .         .         .         .         .       g.24644
 gaaagggcctcacccagtcacccaggttggagtgcagtggtgtgatcatggctaaccgca       c.*1860

          .         .         .         .         .         .       g.24704
 gcctttccctcccagggctcaagcgatcctcccatctgagcctcccaagttgctgggacc       c.*1920

          .         .         .         .         .         .       g.24764
 acaggcccataccaccatgcctggctaatttttgtagagatgaggtctcactttgttgcc       c.*1980

          .         .         .         .         .         .       g.24824
 caggctggtcttgaacttctgggctcaagcagtcctcctaccctggcctcccaaagttgt       c.*2040

          .         .         .         .         .         .       g.24884
 gggattacaggcatgagccactgcacccagccataatatatttttaaaatgctatgtata       c.*2100

          .         .         .         .         .         .       g.24944
 tgccatcatattcctattcctattattatttaaccaccatcatagagcatttaggttctt       c.*2160

          .         .         .         .         .         .       g.25004
 ttcactttctgttgtgaataatgcaatgttgaatctgagttcattaagtgaagagtccag       c.*2220

          .         .         .         .         .         .       g.25064
 ctgcacactgcaggcccagtctggatgtaggtgctcagatggttctctttgagacaggct       c.*2280

          .         .         .         .         .         .       g.25124
 ttatcctttggctctcatttttttgatgagtgtacatggcatgagggacacagattccgc       c.*2340

          .         .         .         .         .         .       g.25184
 tagaattcaaatcccacttgtgtataacctagggcaatgtgccacatctctgcacatctg       c.*2400

          .         .         .         .         .         .       g.25244
 ttcattgtaaggattacatgtttagtgtatataaagctcttaaaacaatgcctgacacat       c.*2460

          .         .         .         .         .         .       g.25304
 agtaaatagaatataatagtagtgctttcctttgctgttgtcagtattactctgagtcgg       c.*2520

          .         .         .         .         .         .       g.25364
 tttcattctcacacagaatgatggccgctagaagctcaaggcttataatctgctagcttt       c.*2580

          .         .         .         .         .         .       g.25424
 ctgatcccactggcatgagatactcttgcctaatagttacagctaaagtccaggagctca       c.*2640

          .         .         .         .         .         .       g.25484
 ctgttactggtctgccttggattatgtgcacattcctgaaccagccactatagctagggg       c.*2700

          .         .         .         .         .         .       g.25544
 atggaaaatactgttcctggttacttaaatgtaggtgatgctcctcccatataccacatg       c.*2760

          .         .         .         .         .         .       g.25604
 aacctaaaggagtcctggaggaggccgttcaccacaggaaactgaggtgttcttagaagg       c.*2820

          .         .         .         .         .         .       g.25664
 gtggatgctggcagatctctactagttagagtctacatttgccttactcatttcaaaagt       c.*2880

          .         .         .         .         .         .       g.25724
 ccacattgcagtctcattttaccagtgatctagcttgataaggacattcataagtaactg       c.*2940

          .         .         .         .         .         .       g.25784
 gatgattctttaacattgcagatttgaaaggattaaataaagtcaacaaaattgttatat       c.*3000

                                                                    g.25787
 caa                                                                c.*3003

 (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 2 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.