peroxisomal biogenesis factor 19 (PEX19) - coding DNA reference sequence

(used for variant description)

(last modified September 4, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_002857.3 in the PEX19 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008637.1, covering PEX19 transcript NM_002857.3.

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

 (upstream sequence)
                                         .         .                g.5027
                                  ctcctacggcaagtcggaggtagcaag       c.-1

          .         .         .         .         .         .       g.5087
 ATGGCCGCCGCTGAGGAAGGCTGTAGTGTCGGGGCCGAAGCGGACAGGGAATTGGAGGAG       c.60
 M  A  A  A  E  E  G  C  S  V  G  A  E  A  D  R  E  L  E  E         p.20

          . | 02       .         .         .         .         .    g.6562
 CTTCTGGAAA | GTGCTCTTGATGATTTCGATAAAGCCAAACCCTCCCCAGCACCCCCTTCT    c.120
 L  L  E  S |   A  L  D  D  F  D  K  A  K  P  S  P  A  P  P  S      p.40

          .         .         .         .         .         .       g.6622
 ACCACCACGGCCCCTGATGCTTCGGGGCCCCAGAAGAGATCGCCAGGAGACACTGCCAAA       c.180
 T  T  T  A  P  D  A  S  G  P  Q  K  R  S  P  G  D  T  A  K         p.60

  | 03       .         .         .         .         .         .    g.7102
  | GATGCCCTCTTCGCTTCCCAAGAGAAGTTTTTCCAGGAACTATTCGACAGTGAACTGGCT    c.240
  | D  A  L  F  A  S  Q  E  K  F  F  Q  E  L  F  D  S  E  L  A      p.80

          .         .         .         .         .         .       g.7162
 TCCCAAGCCACTGCGGAGTTCGAGAAGGCAATGAAGGAGTTGGCTGAGGAAGAACCCCAC       c.300
 S  Q  A  T  A  E  F  E  K  A  M  K  E  L  A  E  E  E  P  H         p.100

          .         .         .         .       | 04 .         .    g.7663
 CTGGTGGAGCAGTTCCAAAAGCTCTCAGAGGCTGCAGGGAGAGTGG | GCAGTGATATGACC    c.360
 L  V  E  Q  F  Q  K  L  S  E  A  A  G  R  V  G |   S  D  M  T      p.120

          .         .         .         .         .         .       g.7723
 TCCCAACAAGAATTCACTTCTTGCCTAAAGGAAACACTAAGTGGATTAGCCAAAAATGCC       c.420
 S  Q  Q  E  F  T  S  C  L  K  E  T  L  S  G  L  A  K  N  A         p.140

          .   | 05     .         .         .         .         .    g.7999
 ACTGACCTTCAG | AACTCCAGCATGTCGGAAGAAGAGCTGACCAAGGCCATGGAGGGGCTA    c.480
 T  D  L  Q   | N  S  S  M  S  E  E  E  L  T  K  A  M  E  G  L      p.160

          .         .         .         .         .         .       g.8059
 GGCATGGACGAAGGGGATGGGGAAGGGAACATCCTCCCCATCATGCAGAGTATTATGCAG       c.540
 G  M  D  E  G  D  G  E  G  N  I  L  P  I  M  Q  S  I  M  Q         p.180

          .         .         .         .         .     | 06   .    g.9911
 AACCTACTCTCCAAGGATGTGCTGTACCCATCACTGAAGGAGATCACAGAAAAG | TATCCA    c.600
 N  L  L  S  K  D  V  L  Y  P  S  L  K  E  I  T  E  K   | Y  P      p.200

          .         .         .         .         .         .       g.9971
 GAATGGTTGCAGAGTCATCGGGAATCTCTACCTCCAGAGCAGTTTGAAAAATATCAGGAG       c.660
 E  W  L  Q  S  H  R  E  S  L  P  P  E  Q  F  E  K  Y  Q  E         p.220

          .         .         .         .         .         .       g.10031
 CAGCACAGCGTCATGTGCAAAATATGTGAGCAGTTTGAGGCAGAGACCCCCACAGACAGT       c.720
 Q  H  S  V  M  C  K  I  C  E  Q  F  E  A  E  T  P  T  D  S         p.240

          .         .         .         .         .  | 07      .    g.10315
 GAAACCACTCAAAAGGCTCGTTTTGAGATGGTGCTGGATCTTATGCAGCAG | CTACAAGAT    c.780
 E  T  T  Q  K  A  R  F  E  M  V  L  D  L  M  Q  Q   | L  Q  D      p.260

          .         .         .       | 08 .         .         .    g.10541
 TTAGGCCATCCTCCAAAAGAGCTGGCTGGAGAGATG | CCTCCTGGCCTCAACTTTGACCTG    c.840
 L  G  H  P  P  K  E  L  A  G  E  M   | P  P  G  L  N  F  D  L      p.280

          .         .         .         .         .         .       g.10601
 GATGCCCTCAATCTTTCGGGCCCACCAGGTGCCAGTGGTGAACAGTGTCTGATCATGTGA       c.900
 D  A  L  N  L  S  G  P  P  G  A  S  G  E  Q  C  L  I  M  X         p.299

          .         .         .         .         .         .       g.10661
 aacacaacacgttttcctctctgagtcccagctatggggaacatctggagtcagcagaac       c.*60

          .         .         .         .         .         .       g.10721
 cattgggacctgaggcaggagtgtcacctgcgggagaagtctgcccgctgccctctgtca       c.*120

          .         .         .         .         .         .       g.10781
 tcccattcaagattgtgccataccagctgaggtttttcctctgtctctctaggaataggg       c.*180

          .         .         .         .         .         .       g.10841
 tctgtttcacaggccatttctgtgaaccctactccattgtggtttctgccactatcaaag       c.*240

          .         .         .         .         .         .       g.10901
 ttccagctacctgcaaggtgaaggaaggcatcccttttggggcatgcactttctttcctt       c.*300

          .         .         .         .         .         .       g.10961
 tctcaaaataatgttatatgtggccacactgatgttcacctttacgtccagggtctttgt       c.*360

          .         .         .         .         .         .       g.11021
 gccttgtctctactccctctcttggatctggggaggaggggcagagacctgggactctgt       c.*420

          .         .         .         .         .         .       g.11081
 atttctatagttctcctggcagagcctttgagaatggggagaaacagcctgggctggggc       c.*480

          .         .         .         .         .         .       g.11141
 tacaggtctgtcactatgctctcttgccttcagacagaccattctgaattctctaaaggg       c.*540

          .         .         .         .         .         .       g.11201
 aaagggcttttgcatctaatcacaatagagttgaaagagaggccttaggattctcctctc       c.*600

          .         .         .         .         .         .       g.11261
 tctaggtgctgagccctcacctccctgttccaggctgagaactcaaatggttaccctgct       c.*660

          .         .         .         .         .         .       g.11321
 tcttcctacaatgctgtgtgatatgggtgaacccagcccctgaccttcctctatcccctg       c.*720

          .         .         .         .         .         .       g.11381
 cccatcctcccttttacctcctctcttttttaaacacctgtttatcccaacctttttgag       c.*780

          .         .         .         .         .         .       g.11441
 ctcaagctgtgataaagaagggcccatcctatttcccctcatctagtccatttacgattc       c.*840

          .         .         .         .         .         .       g.11501
 tcactgactccccgtcttcctggcagacacaaataaacccagtgtcaggtctaggaaatt       c.*900

          .         .         .         .         .         .       g.11561
 aatggctattcttccccagatacattctggcttatttgagatacatgattctcttagaat       c.*960

          .         .         .         .         .         .       g.11621
 cctgtcccttggttcaggaaagtagcttggaaaaggagtaggggtatagcttgggtccct       c.*1020

          .         .         .         .         .         .       g.11681
 tttcctgcaaggccccatggggcagaatataataaatattctgagtgaggagtgtggtct       c.*1080

          .         .         .         .         .         .       g.11741
 ttttctgatcttcctcagcttccgtaagttgcagagtgaggtatattaggagactagttc       c.*1140

          .         .         .         .         .         .       g.11801
 tacacaatattgtaatgctgggttccatcaacacccaccttccacaactcagtctgcacc       c.*1200

          .         .         .         .         .         .       g.11861
 tcagttggcaaaggagactggatggccatctttcctcatgttcccttgagtatttcaatg       c.*1260

          .         .         .         .         .         .       g.11921
 tagaaagcccttcaagtggtattatattttaaccttttacattattgttattaatgttag       c.*1320

          .         .         .         .         .         .       g.11981
 taatatattgttatgttttctaaattatttttctttaagctgacgtggctttttttctgt       c.*1380

          .         .         .         .         .         .       g.12041
 ggctcccagtgggtctacggaccttggctgacatatgttggtaggtactctggtcagctc       c.*1440

          .         .         .         .         .         .       g.12101
 agctggctgtcctggttcactcagaagataagtctctccaaagcaaattcacatgcatta       c.*1500

          .         .         .         .         .         .       g.12161
 tgagtcgctttgagcttctgacatgtcacttgccccgaggttaaaacttttcaccccttg       c.*1560

          .         .         .         .         .         .       g.12221
 aagaccttacatgttttatggtattggtgaggaaggaaatgttctcaaggtctcaggcta       c.*1620

          .         .         .         .         .         .       g.12281
 tttgggaaattccaactcctataccttaccagagcatggaagagcccagatctgaatgta       c.*1680

          .         .         .         .         .         .       g.12341
 aaacgtctctgttctgccagagatggaaaaaatacaggtatacttgtgatatagtcatgg       c.*1740

          .         .         .         .         .         .       g.12401
 ggcttcagtgtcactattttctccttaaagctccagccaaaaactggacaaggatagaga       c.*1800

          .         .         .         .         .         .       g.12461
 ggaggagggaagaacaaaagagcccttctctatgaaccttgtgccttctgtcctaccagt       c.*1860

          .         .         .         .         .         .       g.12521
 tttcttttacagattctcacttctgctagcctagccagggcttactccaggaatctaaat       c.*1920

          .         .         .         .         .         .       g.12581
 agatgccctagtccactttatctttgttcccaaggcactcatttttattttgattttgat       c.*1980

          .         .         .         .         .         .       g.12641
 tgaatgtgagcaggttgacctcaggtcacactttgttccaaaaacttttggaattattcc       c.*2040

          .         .         .         .         .         .       g.12701
 aggacttgtggtggagttatggtactctagggcagtctttctcaaactatgtatggtaaa       c.*2100

          .         .         .         .         .         .       g.12761
 ggaccaggttttttgttttccagtccttcacttatcaatatgcattcctattgcccatga       c.*2160

          .         .         .         .         .         .       g.12821
 caggtatggagttcacactgtgtgctgccgacccggcaagtttgacagcacccaaactgg       c.*2220

          .         .         .         .         .         .       g.12881
 ccagactgttctgtaggttaagtccattgatcatgtacttggatatcacagcaacattga       c.*2280

          .         .         .         .         .         .       g.12941
 aatgctaaaaagtttttaaacactctcaatttctaattcaccatgtcacagactggtgaa       c.*2340

          .         .         .         .         .         .       g.13001
 aaaaaaaaaaaggtgttcactgaccagcacaagtctgcagatcatctttgagtagcactg       c.*2400

          .         .         .         .         .         .       g.13061
 ttttggggccctcggtctctctgaagaccctagcagaactgatacctacctgtatctctt       c.*2460

          .         .         .         .         .         .       g.13121
 gttctctcctatttgagtttcacttccagagaacttgttcttcagcaagaatgtgtcact       c.*2520

          .         .         .         .         .         .       g.13181
 agtaaggacatctctagcatttctctagccttccttttctgctgctcaaaaataatcgtt       c.*2580

          .         .         .         .         .         .       g.13241
 acaaagcttaggtttaagctgtatatgaaatatttatgcgactctcaaactttaaaggag       c.*2640

          .         .         .         .         .         .       g.13301
 ttgctcctttgttccaaaattaaatgtgttagataaatttgtgattgtatgggtggcttc       c.*2700

          .         .         .         .                           g.13343
 atgaattaagaattgaattaatacagactttttgataattgg                         c.*2742

 (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 19 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.