histamine N-methyltransferase (HNMT) - coding DNA reference sequence

(used for variant description)

(last modified February 22, 2024)

This file was created to facilitate the description of sequence variants on transcript NM_006895.2 in the HNMT gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000002.11, covering HNMT transcript NM_006895.2.

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

 (upstream sequence)
                                                   .                g.5014
                                               ttaatacttctatt       c.-241

 .         .         .         .         .         .                g.5074
 tcttacaaaacaaccgtataggggttaaagtatcagtgcaaagtcccgttcaaatattga       c.-181

 .         .         .         .         .         .                g.5134
 ctcagtaatgagctctacaagccagcctttgtggcatgttaaattcaaaacaagcttagc       c.-121

 .         .         .         .         .         .                g.5194
 atttttttttttttttttggatagaaactggtgggggtggggaaagaaagagggaactgg       c.-61

 .         .         .         .         .         .                g.5254
 gaagagaaggaggggaacttaaaccttgcttcctgctctgtctttctcagaaaaccaaat       c.-1

          .         .         .         .         .         .       g.5314
 ATGGCATCTTCCATGAGGAGCTTGTTTTCTGACCACGGGAAATATGTTGAATCTTTCCGG       c.60
 M  A  S  S  M  R  S  L  F  S  D  H  G  K  Y  V  E  S  F  R         p.20

          .         .         .         .         .         .       g.5374
 AGGTTTCTCAACCATTCCACGGAACACCAGTGCATGCAGGAATTCATGGACAAGAAGCTG       c.120
 R  F  L  N  H  S  T  E  H  Q  C  M  Q  E  F  M  D  K  K  L         p.40

          .        | 02.         .         .         .         .    g.10970
 CCAGGCATAATAGGAAG | GATTGGAGACACAAAATCAGAAATTAAGATTCTAAGCATAGGC    c.180
 P  G  I  I  G  R  |  I  G  D  T  K  S  E  I  K  I  L  S  I  G      p.60

          . | 03       .         .         .         .         .    g.41730
 GGAGGTGCAG | GTGAAATTGATCTTCAAATTCTCTCCAAAGTTCAGGCTCAATACCCAGGA    c.240
 G  G  A  G |   E  I  D  L  Q  I  L  S  K  V  Q  A  Q  Y  P  G      p.80

          .         .         .         .         .         | 04    g.42828
 GTTTGTATCAACAATGAAGTTGTTGAGCCAAGTGCTGAACAAATTGCCAAATACAAAG | AG    c.300
 V  C  I  N  N  E  V  V  E  P  S  A  E  Q  I  A  K  Y  K  E |       p.100

          .         .         .         .         .         .       g.42888
 CTTGTAGCCAAGACATCGAACCTCGAGAACGTAAAGTTTGCTTGGCATAAGGAGACATCA       c.360
 L  V  A  K  T  S  N  L  E  N  V  K  F  A  W  H  K  E  T  S         p.120

          .         .         .         .         .         .       g.42948
 TCTGAATACCAAAGTAGAATGTTGGAGAAAAAGGAGCTTCAAAAGTGGGACTTTATTCAT       c.420
 S  E  Y  Q  S  R  M  L  E  K  K  E  L  Q  K  W  D  F  I  H         p.140

           | 05        .         .         .         .         .    g.45945
 ATGATTCAA | ATGCTGTATTATGTAAAAGACATCCCAGCTACCCTGAAATTCTTCCATAGT    c.480
 M  I  Q   | M  L  Y  Y  V  K  D  I  P  A  T  L  K  F  F  H  S      p.160

          .         .         .         .    | 06    .         .    g.54554
 CTCTTAGGTACCAATGCTAAGATGCTCATTATTGTTGTGTCAG | GAAGCAGTGGCTGGGAC    c.540
 L  L  G  T  N  A  K  M  L  I  I  V  V  S  G |   S  S  G  W  D      p.180

          .         .         .         .         .         .       g.54614
 AAGCTGTGGAAAAAGTACGGATCACGCTTTCCCCAGGATGACCTCTGCCAGTATATCACA       c.600
 K  L  W  K  K  Y  G  S  R  F  P  Q  D  D  L  C  Q  Y  I  T         p.200

          .         .         .         .         .         .       g.54674
 TCAGATGACCTCACTCAGATGCTGGACAACCTAGGGCTTAAGTATGAGTGCTATGACCTT       c.660
 S  D  D  L  T  Q  M  L  D  N  L  G  L  K  Y  E  C  Y  D  L         p.220

          .         .         .         .         .         .       g.54734
 TTGTCCACCATGGATATATCTGACTGCTTTATTGATGGTAATGAAAATGGAGACCTGCTT       c.720
 L  S  T  M  D  I  S  D  C  F  I  D  G  N  E  N  G  D  L  L         p.240

          .         .         .         .         .         .       g.54794
 TGGGATTTTTTGACTGAAACCTGCAACTTTAATGCCACAGCACCACCTGATCTCAGAGCA       c.780
 W  D  F  L  T  E  T  C  N  F  N  A  T  A  P  P  D  L  R  A         p.260

          .         .         .         .         .         .       g.54854
 GAGCTTGGGAAAGATCTACAAGAGCCTGAATTTAGTGCTAAGAAAGAGGGGAAGGTTCTT       c.840
 E  L  G  K  D  L  Q  E  P  E  F  S  A  K  K  E  G  K  V  L         p.280

          .         .         .                                     g.54893
 TTTAATAATACTCTGAGTTTCATAGTGATTGAGGCATAA                            c.879
 F  N  N  T  L  S  F  I  V  I  E  A  X                              p.292

          .         .         .         .         .         .       g.54953
 ctatcaatcacaaaagtatattcaaaaattatattttgaacaactcgaatcactcattta       c.*60

          .         .         .         .         .         .       g.55013
 tttccatattaaaatcacaaactcatccattaatgtagataaagcactgtttggatatga       c.*120

          .         .         .         .         .         .       g.55073
 gatgtagcaaattccaatacattattggacttccatttggaatcatatgggatactgctg       c.*180

          .         .         .         .         .         .       g.55133
 gtcttatcctgtccctcctccaggtagagagaccacaagcaggctcaacataacataagc       c.*240

          .         .         .         .         .         .       g.55193
 tagaaaaattagatgactgaatttctatggcatattgataataaaattcattccatttgc       c.*300

          .         .         .         .         .         .       g.55253
 tgattgtctgaaattttctagaatactaataaaatacatactatagattctttattagtg       c.*360

          .         .         .         .         .         .       g.55313
 aagtatgcactaatcaatactttgaacacaaagcctgtgttactgatttggccgttttgt       c.*420

          .         .         .         .         .         .       g.55373
 gaagaaacatttatctttgtacgttcttctattgtgctttctatctaatttttattaatt       c.*480

          .         .         .         .         .         .       g.55433
 tgtaagagtaagcacctttagaatattaaaaattaattctttatcacatgttgtcatttc       c.*540

          .         .         .         .         .         .       g.55493
 ttcccattgtgttttctcttgtaattttatctgtgaattaatagctttttgtttgtcttt       c.*600

          .         .         .         .         .         .       g.55553
 ttgatatactgaagttttctattatattcagccagatttttttttaagtctcggcttctg       c.*660

          .         .         .         .         .         .       g.55613
 atacattttaaaagaccttctaaaaccaaggttttagaatactaacattttatcaaaata       c.*720

          .         .         .         .         .         .       g.55673
 atattatagttttgctttttttaaaaaatgaaatctttactatgtttgaaatttagataa       c.*780

          .         .         .         .         .         .       g.55733
 gtataaacagtgagaacaaactgtttcccctcaaaataatagccagatgtataaacaaaa       c.*840

          .         .         .         .         .         .       g.55793
 tttattgaagaacaaagaaacacaaaactaaacctgttctagcttaaaatgcagctttta       c.*900

          .         .         .         .         .         .       g.55853
 ccagatttctaggaattgggtaaatgcaaggttctagaaaaccttcaatgcattttgata       c.*960

          .         .         .         .         .         .       g.55913
 ctttatagtttcttatgtcactctcaagaactcctataagaccaagagtcatctttggac       c.*1020

          .         .         .         .         .         .       g.55973
 tgtaggatttcaggggggttttgaaaacaaatttgatgtttcttatttttaataataacg       c.*1080

          .         .         .         .         .         .       g.56033
 ctctgttatttttgacataaacagtacatttaataattaataaataaatattttaagtat       c.*1140

          .         .         .         .         .         .       g.56093
 gtaaataattagtactccctgtcacaaacaaaacaaaagtaaggttttactaaacagctc       c.*1200

          .         .         .         .         .         .       g.56153
 atgagccctcattctgccagtgaggaagccttcaaccccgtgtgatactcactctttcat       c.*1260

          .         .         .         .         .         .       g.56213
 gcaatagggcttccatgtaatgttgccgtataatcactttaaaaagttaaacgacccatc       c.*1320

          .         .         .         .         .         .       g.56273
 tcaatcacctagtttatccccagggaatacactggcatagagagcctatttacactaata       c.*1380

          .         .         .         .         .         .       g.56333
 aactaccaagctttgttgttcataataagtaaaatggacttgcattgctctcttttttgg       c.*1440

          .         .         .         .         .         .       g.56393
 acaacttcatcaatgctttttgaattatatgtttcaacaaatgaaacgacagttatccaa       c.*1500

          .         .         .         .         .         .       g.56453
 tcagattcctgaaaatgaacactgaaccgttaatcatactgatatgtactactgacaaag       c.*1560

          .         .         .         .         .         .       g.56513
 gaaatctgtgaggcacacatgattgatgggtatggggccatgaagaccttgaagagcttc       c.*1620

          .         .         .         .         .         .       g.56573
 accagaagtatggaaatcaagactttacagagtcttttgtataaagcacacgtgcaaaaa       c.*1680

          .         .         .         .         .         .       g.56633
 caaacaaaattagaactaacaatgctattgaaagatacaaaagaattgcagtccatagat       c.*1740

          .         .         .         .         .         .       g.56693
 tggtgtttgtaaatatggcctttttctcgtccttattaaacccttagtatacaaggataa       c.*1800

          .         .         .         .         .         .       g.56753
 ataaattctcacctgcttaattttagtgcaattgaaacacataagcctttttaaagagag       c.*1860

          .         .         .         .         .         .       g.56813
 aaattcccatgaaaacctactagtcagcaatgggaagttgtataaattcaagggataaac       c.*1920

          .         .         .         .         .         .       g.56873
 ctatccctgttttcttcctgcactgtatgataataccaaaatttgggacagtcacatact       c.*1980

          .         .         .         .         .         .       g.56933
 aacttttcagatttgttcttgtgtttcagaaaaaagtgctcagcatgaatttggaatgtt       c.*2040

          .         .         .         .         .         .       g.56993
 gttttatgtattgttgtggatctctcagtgtttaacatggtgccttgcatatggtaaatg       c.*2100

          .         .         .         .         .         .       g.57053
 ctaagtaaagcgggatcaatgaattatttccttctcaaacatttatcttataccttgtgt       c.*2160

          .         .         .         .         .         .       g.57113
 gttcatattattattataaacagagctcaagaaacccaataaagttatgtgttgccagtg       c.*2220

          .                                                         g.57127
 taaaccttaactta                                                     c.*2234

 (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 Histamine N-methyltransferase 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.