heme oxygenase (decycling) 1 (HMOX1) - coding DNA reference sequence

(used for variant description)

(last modified January 14, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_002133.2 in the HMOX1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_023030.1, covering HMOX1 transcript NM_002133.2.

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

 (upstream sequence)
                     .         .         .         .                g.5047
              aaatgtgaccggccgcggctccggcagtcaacgcctgcctcctctcg       c.-61

 .         .         .         .         .         .                g.5107
 agcgtcctcagcgcagccgccgcccgcggagccagcacgaacgagcccagcaccggccgg       c.-1

          .         .    | 02    .         .         .         .    g.7076
 ATGGAGCGTCCGCAACCCGACAG | CATGCCCCAGGATTTGTCAGAGGCCCTGAAGGAGGCC    c.60
 M  E  R  P  Q  P  D  S  |  M  P  Q  D  L  S  E  A  L  K  E  A      p.20

          .         .         .         .         .         .       g.7136
 ACCAAGGAGGTGCACACCCAGGCAGAGAATGCTGAGTTCATGAGGAACTTTCAGAAGGGC       c.120
 T  K  E  V  H  T  Q  A  E  N  A  E  F  M  R  N  F  Q  K  G         p.40

          .         .     | 03   .         .         .         .    g.10654
 CAGGTGACCCGAGACGGCTTCAAG | CTGGTGATGGCCTCCCTGTACCACATCTATGTGGCC    c.180
 Q  V  T  R  D  G  F  K   | L  V  M  A  S  L  Y  H  I  Y  V  A      p.60

          .         .         .         .         .         .       g.10714
 CTGGAGGAGGAGATTGAGCGCAACAAGGAGAGCCCAGTCTTCGCCCCTGTCTACTTCCCA       c.240
 L  E  E  E  I  E  R  N  K  E  S  P  V  F  A  P  V  Y  F  P         p.80

          .         .         .         .         .         .       g.10774
 GAAGAGCTGCACCGCAAGGCTGCCCTGGAGCAGGACCTGGCCTTCTGGTACGGGCCCCGC       c.300
 E  E  L  H  R  K  A  A  L  E  Q  D  L  A  F  W  Y  G  P  R         p.100

          .         .         .         .         .         .       g.10834
 TGGCAGGAGGTCATCCCCTACACACCAGCCATGCAGCGCTATGTGAAGCGGCTCCACGAG       c.360
 W  Q  E  V  I  P  Y  T  P  A  M  Q  R  Y  V  K  R  L  H  E         p.120

          .         .         .         .         .         .       g.10894
 GTGGGGCGCACAGAGCCCGAGCTGCTGGTGGCCCACGCCTACACCCGCTACCTGGGTGAC       c.420
 V  G  R  T  E  P  E  L  L  V  A  H  A  Y  T  R  Y  L  G  D         p.140

          .         .         .         .         .         .       g.10954
 CTGTCTGGGGGCCAGGTGCTCAAAAAGATTGCCCAGAAAGCCCTGGACCTGCCCAGCTCT       c.480
 L  S  G  G  Q  V  L  K  K  I  A  Q  K  A  L  D  L  P  S  S         p.160

          .         .         .         .         .         .       g.11014
 GGCGAGGGCCTGGCCTTCTTCACCTTCCCCAACATTGCCAGTGCCACCAAGTTCAAGCAG       c.540
 G  E  G  L  A  F  F  T  F  P  N  I  A  S  A  T  K  F  K  Q         p.180

          .         .         .         .         .         .       g.11074
 CTCTACCGCTCCCGCATGAACTCCCTGGAGATGACTCCCGCAGTCAGGCAGAGGGTGATA       c.600
 L  Y  R  S  R  M  N  S  L  E  M  T  P  A  V  R  Q  R  V  I         p.200

          .         .         .       | 04 .         .         .    g.13821
 GAAGAGGCCAAGACTGCGTTCCTGCTCAACATCCAG | CTCTTTGAGGAGTTGCAGGAGCTG    c.660
 E  E  A  K  T  A  F  L  L  N  I  Q   | L  F  E  E  L  Q  E  L      p.220

          .         .         .         .         .         .       g.13881
 CTGACCCATGACACCAAGGACCAGAGCCCCTCACGGGCACCAGGGCTTCGCCAGCGGGCC       c.720
 L  T  H  D  T  K  D  Q  S  P  S  R  A  P  G  L  R  Q  R  A         p.240

          .       | 05 .         .         .         .         .    g.17445
 AGCAACAAAGTGCAAG | ATTCTGCCCCCGTGGAGACTCCCAGAGGGAAGCCCCCACTCAAC    c.780
 S  N  K  V  Q  D |   S  A  P  V  E  T  P  R  G  K  P  P  L  N      p.260

          .         .         .         .         .         .       g.17505
 ACCCGCTCCCAGGCTCCGCTTCTCCGATGGGTCCTTACACTCAGCTTTCTGGTGGCGACA       c.840
 T  R  S  Q  A  P  L  L  R  W  V  L  T  L  S  F  L  V  A  T         p.280

          .         .                                               g.17532
 GTTGCTGTAGGGCTTTATGCCATGTGA                                        c.867
 V  A  V  G  L  Y  A  M  X                                          p.288

          .         .         .         .         .         .       g.17592
 atgcaggcatgctggctcccagggccatgaactttgtccggtggaaggccttctttctag       c.*60

          .         .         .         .         .         .       g.17652
 agagggaattctcttggctggcttccttaccgtgggcactgaaggctttcagggcctcca       c.*120

          .         .         .         .         .         .       g.17712
 gccctctcactgtgtccctctctctggaaaggaggaaggagcctatggcatcttccccaa       c.*180

          .         .         .         .         .         .       g.17772
 cgaaaagcacatccaggcaatggcctaaacttcagagggggcgaagggatcagccctgcc       c.*240

          .         .         .         .         .         .       g.17832
 cttcagcatcctcagttcctgcagcagagcctggaagacaccctaatgtggcagctgtct       c.*300

          .         .         .         .         .         .       g.17892
 caaacctccaaaagccctgagtttcaagtatccttgttgacacggccatgaccactttcc       c.*360

          .         .         .         .         .         .       g.17952
 ccgtgggccatggcaatttttacacaaacctgaaaagatgttgtgtcttgtgtttttgtc       c.*420

          .         .         .         .         .         .       g.18012
 ttatttttgttggagccactctgttcctggctcagcctcaaatgcagtatttttgttgtg       c.*480

          .         .         .         .         .         .       g.18072
 ttctgttgtttttatagcagggttggggtggtttttgagccatgcgtgggtggggaggga       c.*540

          .         .         .         .         .         .       g.18132
 ggtgtttaacggcactgtggccttggtctaacttttgtgtgaaataataaacaacattgt       c.*600

          .                                                         g.18148
 ctgatagtagcttgaa                                                   c.*616

 (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 Heme oxygenase (decycling) 1 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.