peroxisomal biogenesis factor 26 (PEX26) - 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_017929.5 in the PEX26 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008339.1, covering PEX26 transcript NM_017929.5.

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

 (upstream sequence)
                                         .         .                g.5029
                                attacagaaggcgatgggccgagagctga       c.-181

 .         .         .         .         .         .                g.5089
 ggaactacaactcctagagtactccgcgccgccgggacgccgcgcggctgcggggctggg       c.-121

 .         .         .         .         | 02         .             g.5397
 cgagcgcaaagatgtccgcgcccgctgccgggaggcgag | gccaactcgggatatcccgga    c.-61

 .         .         .         .         .         .                g.5457
 gcctctggggaggcggtcactccgacgtctgaggacctgggccttggacccggactcgtt       c.-1

          .         .         .         .         .         .       g.5517
 ATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGC       c.60
 M  K  S  D  S  S  T  S  A  A  P  L  R  G  L  G  G  P  L  R         p.20

          .         .         .         .         .         .       g.5577
 AGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAG       c.120
 S  S  E  P  V  R  A  V  P  A  R  A  P  A  V  D  L  L  E  E         p.40

          .         .         .         .         .         .       g.5637
 GCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGG       c.180
 A  A  D  L  L  V  V  H  L  D  F  R  A  A  L  E  T  C  E  R         p.60

          .         .         .         .         . | 03       .    g.6964
 GCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCAC | CTCATTGGAG    c.240
 A  W  Q  S  L  A  N  H  A  V  A  E  E  P  A  G  T  |  S  L  E      p.80

          .         .         .         .         .         .       g.7024
 GTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAA       c.300
 V  K  C  S  L  C  V  V  G  I  Q  A  L  A  E  M  D  R  W  Q         p.100

          .         .         .         .         .         .       g.7084
 GAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTC       c.360
 E  V  L  S  W  V  L  Q  Y  Y  Q  V  P  E  K  L  P  P  K  V         p.120

          .  | 04      .         .         .         .         .    g.10566
 CTGGAGCTGTG | CATTCTTTTATACAGCAAAATGCAAGAGCCTGGAGCTGTGCTGGATGTG    c.420
 L  E  L  C  |  I  L  L  Y  S  K  M  Q  E  P  G  A  V  L  D  V      p.140

          .         .         .         .         .         .       g.10626
 GTGGGTGCCTGGCTCCAAGACCCAGCCAATCAAAACCTTCCAGAATATGGAGCCTTGGCA       c.480
 V  G  A  W  L  Q  D  P  A  N  Q  N  L  P  E  Y  G  A  L  A         p.160

          .         .         .         .         .         .       g.10686
 GAATTTCACGTGCAGCGGGTGCTGCTGCCTCTGGGCTGCTTATCGGAGGCTGAGGAGCTA       c.540
 E  F  H  V  Q  R  V  L  L  P  L  G  C  L  S  E  A  E  E  L         p.180

          .         .         .         .         .         .       g.10746
 GTGGTGGGCTCTGCAGCCTTTGGTGAGGAGCGGCGACTGGATGTACTTCAGGCCATTCAC       c.600
 V  V  G  S  A  A  F  G  E  E  R  R  L  D  V  L  Q  A  I  H         p.200

          .         .         .         .         .         .       g.10806
 ACAGCGAGGCAGCAGCAGAAACAGGAACACTCAGGCTCTGAGGAGGCCCAGAAGCCAAAC       c.660
 T  A  R  Q  Q  Q  K  Q  E  H  S  G  S  E  E  A  Q  K  P  N         p.220

         | 05.         .         .         .         .         .    g.12245
 CTGGAAG | GCTCTGTCTCCCACAAGTTCCTGTCACTACCGATGTTGGTTCGCCAGCTTTGG    c.720
 L  E  G |   S  V  S  H  K  F  L  S  L  P  M  L  V  R  Q  L  W      p.240

          .         .         .         .         .         .       g.12305
 GACTCTGCGGTGAGCCACTTCTTTTCTCTGCCCTTCAAAAAGAGTCTCCTGGCTGCCTTG       c.780
 D  S  A  V  S  H  F  F  S  L  P  F  K  K  S  L  L  A  A  L         p.260

          .         .         .     | 06   .         .         .    g.15078
 ATCCTCTGTCTCCTGGTGGTGAGATTTGATCCAG | CTTCCCCTTCCTCCCTGCACTTCCTC    c.840
 I  L  C  L  L  V  V  R  F  D  P  A |   S  P  S  S  L  H  F  L      p.280

          .         .         .         .         .         .       g.15138
 TACAAGCTGGCCCAGCTCTTCCGCTGGATCCGGAAGGCTGCATTTTCTCGCCTCTACCAG       c.900
 Y  K  L  A  Q  L  F  R  W  I  R  K  A  A  F  S  R  L  Y  Q         p.300

          .                                                         g.15156
 CTCCGCATCCGTGACTGA                                                 c.918
 L  R  I  R  D  X                                                   p.305

          .         .         .         .         .         .       g.15216
 gggtccctgcgcaccacagcctctctgctcctcacgtccgtggccacagaagcagagcga       c.*60

          .         .         .         .         .         .       g.15276
 cagagcgacacatccacaggcgcccctggggaaatgggaccagcctaatctcgcggagtg       c.*120

          .         .         .         .         .         .       g.15336
 cactgtgtcttgctgcctgggtgccctctcctttgcaccctacttcggctggtcgcggta       c.*180

          .         .         .         .         .         .       g.15396
 gatgatgtggaaacaaagcaggaccagcaggcacagcacctccagaacagtgccccggat       c.*240

          .         .         .         .         .         .       g.15456
 gaccagaggccccttgaaaaggaggggtttggggacagggactgtgtccatgaaacattc       c.*300

          .         .         .         .         .         .       g.15516
 catcttcttggtgaaggcaaggggttggttcttcaggtcaggatgttaatggagctggaa       c.*360

          .         .         .         .         .         .       g.15576
 gttcagaaaaagcctggtgaagtgacccttggcctttcacttcttgagaaacatacttct       c.*420

          .         .         .         .         .         .       g.15636
 ttgctgggcatggtgactcacgcctgtaatcccagcactttggaagggtgaggtgggtgg       c.*480

          .         .         .         .         .         .       g.15696
 atcacttgtggccaggagttcaaaacctgcctggccaacatggtgaaaccccatctctac       c.*540

          .         .         .         .         .         .       g.15756
 taaaaatacaaaaattagctagatgtggtgcacgcctatagtcctagctacttgggaggc       c.*600

          .         .         .         .         .         .       g.15816
 tgaggcaggagaatcacttgagccagggaggcaaaagttgcagtgagctgagattgtgct       c.*660

          .         .         .         .         .         .       g.15876
 accgcactctctcaaaacaaacaaaaaaacatgccccacaggacagtaccttaattagct       c.*720

          .         .         .         .         .         .       g.15936
 agagtagatctgagagggcctcttcttgcctgcactgtgctccccagagctgatctaatt       c.*780

          .         .         .         .         .         .       g.15996
 ctgtatcaataggctgttcccatggtcttgccatgcgcttgaagctgcaggagccttctc       c.*840

          .         .         .         .         .         .       g.16056
 actgttcaggctggggtgtggttttcagaaccaccgggttgactactgaaaaccaagtga       c.*900

          .         .         .         .         .         .       g.16116
 gccttacagctcttatcgctgggtaaagtgatcttgcctggtgcctcttggtcttcagct       c.*960

          .         .         .         .         .         .       g.16176
 caattttccaggttgtcctggccaagtcttgctctgttacgctcagtgcctctgcccact       c.*1020

          .         .         .         .         .         .       g.16236
 ctttccccgccagcccttccctcccgccctgcaaacttgtcccttggctgtttcaccagg       c.*1080

          .         .         .         .         .         .       g.16296
 ttctgcctgtatccttgcctccttggtacacaccatttcaggttcttccctttctgtgtc       c.*1140

          .         .         .         .         .         .       g.16356
 ccattgtcctagttatgttctgttgtttgtgtaatgcccaaatttttctgctcgtgtggc       c.*1200

          .         .         .         .         .         .       g.16416
 cttgaaaagtaggccagcctcagaggctgctgagctgaaaatggaactgagtaatcaggt       c.*1260

          .         .         .         .         .         .       g.16476
 gagctggaagggatgtggggggcggggcagacgggagacatgggttttgaaggcagtgaa       c.*1320

          .         .         .         .         .         .       g.16536
 caataaaaccttagggaggtggcaccgaggccttagcatttgaggagctgaaatgtttca       c.*1380

          .         .         .         .         .         .       g.16596
 gtgttgttttctcaccagccacaagcatcttatgagtttctgtgcaaggaagcgtagagc       c.*1440

          .         .         .         .         .         .       g.16656
 actgctgtgctgtcaggatgaagaagggctttctgcaggggctggcctttctctacccag       c.*1500

          .         .         .         .         .         .       g.16716
 aggccaagcaggctgccctgcactgtgtccttggtgttgatgcccaaaatagagaaggtg       c.*1560

          .         .         .         .         .         .       g.16776
 cttgctagcttttccttggtacattttcgggggttgcaaggcaacaagttttcttttgtt       c.*1620

          .         .         .         .         .         .       g.16836
 ttgtttgtttgtttgtttgtttgtttttgagatggagtctctgtcacccaggctggagtg       c.*1680

          .         .         .         .         .         .       g.16896
 cagtggcgtgatctcagctcactgcaagctccgcctcccgggttcatgccattctcctgc       c.*1740

          .         .         .         .         .         .       g.16956
 ctcagcctcccgagtagctgggactacaggtgcccaccacctcgcctggctaatattttt       c.*1800

          .         .         .         .         .         .       g.17016
 gtatttttagtagagtctgggtttcactgtgttagccgggatggtctcgatctcctgaac       c.*1860

          .         .         .         .         .         .       g.17076
 ttgtgatccacccacctaggcctcccaaagtgctgggattacaggtgtgagccatcgcgc       c.*1920

          .         .         .         .         .         .       g.17136
 ccggccaacttttctttagaaaaatgagtaaagtaggtaaacttcacaggccccttagaa       c.*1980

          .         .         .         .         .         .       g.17196
 ttaaatccttagggcatggttcaagtctgtaggaagcaaatctatacttttttatatggg       c.*2040

          .         .         .         .         .         .       g.17256
 cttttaagtaaagcttagaaccctggggggagaaaagcagtcaggtgaggtttgagattc       c.*2100

          .         .         .         .         .         .       g.17316
 cttctatagaatgatttcttaaaatgaaaatctgggcccacttaactaccctagataaaa       c.*2160

          .         .         .         .         .         .       g.17376
 cgcttcaatggcttcccatggctcactggataacatctaaattcttcatggaattgaagg       c.*2220

          .         .         .         .         .         .       g.17436
 cccctatgtgctggttttggctaagatctcccctttgatgtgggtcccctgttgattata       c.*2280

          .         .         .         .         .         .       g.17496
 tgtgcggccttccagctgcccaccatcacagctacagctcgctccccttggcctctgtgc       c.*2340

          .         .         .         .         .         .       g.17556
 cttggctcgcactgttcctactgaaggcctagcacctgctcttggcctggtgagcccctc       c.*2400

          .         .         .         .         .         .       g.17616
 caccttccaggcttactcaaagaattctttctgcccctccctgtgtcccgggacctgttt       c.*2460

          .         .         .         .         .         .       g.17676
 catatcgcttctgtggtcgtgaccccatggtcttgtaattgtgaacttctttgctgcccc       c.*2520

          .         .         .         .         .         .       g.17736
 ttcgaagctggggagtgcttgttgcagatgcatccaagaggggtaattgcgtatcaacag       c.*2580

          .         .         .         .         .         .       g.17796
 tggatttgctggttgtttctacagggttctgaagcatgcaacatagaacagataccttta       c.*2640

          .         .         .         .         .         .       g.17856
 aatttaggggcgctaaggaaagcaggaaccagtaatcctcttctgtggtgggatgggagg       c.*2700

          .         .         .         .         .         .       g.17916
 gtgggggagaggggtggaatggagaggaaacaggctattgttggccagccctgggtggag       c.*2760

          .         .         .         .         .         .       g.17976
 gtgggtgcaagcaggacagatagtgcctgggggtgggggcggagggttcgcctctaggaa       c.*2820

          .         .         .         .         .         .       g.18036
 ggggctagaagggatgaggaaatagttcatagcttcgtgcaggtgatccctattctgcgt       c.*2880

          .         .         .         .         .         .       g.18096
 gtatgtgtttgcacatgagtgtttgtagaccatagaccattaaaaaatacggaattcaaa       c.*2940

          .                                                         g.18112
 agttacaaaaagggta                                                   c.*2956

 (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 26 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.