3-hydroxyisobutyryl-CoA hydrolase (HIBCH) - coding DNA reference sequence

(used for variant description)

(last modified January 26, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_014362.3 in the HIBCH gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_017062.1, covering HIBCH transcript NM_014362.3.

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

 (upstream sequence)
           .         .         .         .         .                g.5055
      cctgcgaatccgccctagtccgttctatcctccctcttcccgctccgcctcagct       c.-241

 .         .         .         .         .         .                g.5115
 cgctctccgccttctccctggcccggtccccgatcccttcctctccctcaactatttcct       c.-181

 .         .         .         .         .         .                g.5175
 ccaggcgtcgttcttgccccgcccttccccgtcgcgtagcggaaacggtcgctctggctt       c.-121

 .         .         .         .         .         .                g.5235
 cctggaggacttgtcatctgtgcccggcggcgcaggacggcggtgggcggggctcacgcg       c.-61

 .         .         .         .         .         .                g.5295
 aggcgctggaacggtccgggagattctcgctctgctgctttagcttcggagtgtttggcg       c.-1

          .         .         .      | 02  .         .         .    g.14274
 ATGGGGCAGCGCGAGATGTGGAGGCTCATGTCGAG | GTTTAATGCATTCAAAAGGACTAAT    c.60
 M  G  Q  R  E  M  W  R  L  M  S  R  |  F  N  A  F  K  R  T  N      p.20

          .         | 03         .         .         .         .    g.28134
 ACCATACTGCACCATTTG | AGAATGTCCAAGCACACAGATGCAGCAGAAGAGGTGCTATTG    c.120
 T  I  L  H  H  L   | R  M  S  K  H  T  D  A  A  E  E  V  L  L      p.40

          .         .         .         .         .         .       g.28194
 GAAAAAAAAGGTTGCACGGGAGTCATAACACTAAACAGACCAAAGTTCCTCAATGCACTG       c.180
 E  K  K  G  C  T  G  V  I  T  L  N  R  P  K  F  L  N  A  L         p.60

          .         .         .          | 04        .         .    g.30436
 ACTCTTAATATGATTCGGCAGATTTATCCACAGCTAAAG | AAGTGGGAACAAGATCCTGAA    c.240
 T  L  N  M  I  R  Q  I  Y  P  Q  L  K   | K  W  E  Q  D  P  E      p.80

          .         .         .         .         .         .       g.30496
 ACTTTCCTGATCATTATAAAGGGAGCAGGAGGAAAGGCTTTCTGTGCCGGGGGTGATATC       c.300
 T  F  L  I  I  I  K  G  A  G  G  K  A  F  C  A  G  G  D  I         p.100

      | 05   .         .         .         .         .         .    g.34616
 AGAG | TGATCTCGGAAGCTGAAAAGGCAAAACAGAAGATAGCTCCAGTTTTCTTCAGAGAA    c.360
 R  V |   I  S  E  A  E  K  A  K  Q  K  I  A  P  V  F  F  R  E      p.120

          .         .      | 06  .         .         .         .    g.37442
 GAATATATGCTGAATAATGCTGTTG | GTTCTTGCCAGAAACCTTATGTTGCACTTATTCAT    c.420
 E  Y  M  L  N  N  A  V  G |   S  C  Q  K  P  Y  V  A  L  I  H      p.140

          .         | 07         .         .         .         .    g.63853
 GGAATTACAATGGGTGGG | GGAGTTGGTCTCTCAGTCCATGGGCAATTTCGAGTGGCTACA    c.480
 G  I  T  M  G  G   | G  V  G  L  S  V  H  G  Q  F  R  V  A  T      p.160

          .         .         .        | 08.         .         .    g.72761
 GAAAAGTGTCTTTTTGCTATGCCAGAAACTGCAATAG | GACTGTTCCCTGATGTGGGTGGA    c.540
 E  K  C  L  F  A  M  P  E  T  A  I  G |   L  F  P  D  V  G  G      p.180

          .         .         .         .         .         .       g.72821
 GGTTATTTCTTGCCACGACTCCAAGGAAAACTTGGTTACTTCCTTGCATTAACAGGATTC       c.600
 G  Y  F  L  P  R  L  Q  G  K  L  G  Y  F  L  A  L  T  G  F         p.200

          .         .         .         .         .         .       g.72881
 AGACTAAAAGGAAGAGATGTGTACAGAGCAGGAATTGCTACACACTTTGTAGATTCTGAA       c.660
 R  L  K  G  R  D  V  Y  R  A  G  I  A  T  H  F  V  D  S  E         p.220

     | 09    .         .         .         .         .         .    g.75376
 AAG | TTGGCCATGTTAGAGGAAGATTTGTTAGCCTTGAAATCTCCTTCAAAAGAAAATATT    c.720
 K   | L  A  M  L  E  E  D  L  L  A  L  K  S  P  S  K  E  N  I      p.240

          .         .         . | 10       .         .         .    g.78863
 GCATCTGTCTTAGAAAATTACCATACAGAG | TCTAAGATTGATCGAGACAAGTCTTTTATA    c.780
 A  S  V  L  E  N  Y  H  T  E   | S  K  I  D  R  D  K  S  F  I      p.260

          .         .          | 11        .         .         .    g.80108
 CTTGAGGAACACATGGACAAAATAAACAG | TTGTTTTTCAGCCAATACTGTGGAAGAAATT    c.840
 L  E  E  H  M  D  K  I  N  S  |  C  F  S  A  N  T  V  E  E  I      p.280

          .         .         .         .         .  | 12      .    g.111979
 ATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAG | GTAATTAAT    c.900
 I  E  N  L  Q  Q  D  G  S  S  F  A  L  E  Q  L  K   | V  I  N      p.300

          .         .         .         .         .         .       g.112039
 AAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAG       c.960
 K  M  S  P  T  S  L  K  I  T  L  R  Q  L  M  E  G  S  S  K         p.320

          .         .         .         .         .  | 13      .    g.116141
 ACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATG | AGAGGTCAT    c.1020
 T  L  Q  E  V  L  T  M  E  Y  R  L  S  Q  A  C  M   | R  G  H      p.340

          .         .      | 14  .         .         .         .    g.119848
 GACTTTCATGAAGGCGTTAGAGCTG | TTTTAATTGATAAAGACCAGAGTCCAAAATGGAAA    c.1080
 D  F  H  E  G  V  R  A  V |   L  I  D  K  D  Q  S  P  K  W  K      p.360

          .         .         .         .         .         .       g.119908
 CCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGA       c.1140
 P  A  D  L  K  E  V  T  E  E  D  L  N  N  H  F  K  S  L  G         p.380

          .         .                                               g.119929
 AGCAGTGATTTGAAATTTTGA                                              c.1161
 S  S  D  L  K  F  X                                                p.386

          .         .         .         .         .         .       g.119989
 ggtgacaggcttttaaggtatattttgtagcatgggttggcaatctacagcatgtgggcc       c.*60

          .         .         .         .         .         .       g.120049
 aaatccagcctgctgcctgtttttatataccctgtaagctaagaatggtttccgcatttt       c.*120

          .         .         .         .         .         .       g.120109
 taaatggttgggaaaagaaatcaaagactaataattcatgacgtgaaaattatcagaatt       c.*180

          .         .         .         .         .         .       g.120169
 cacaaataaagctttattggaactagctatactcatctgtttatatattatctgtggctg       c.*240

          .         .         .         .         .         .       g.120229
 ctttgaaatgagtagttgcaatagagatggtaaagcctacaaagcctaattatttactgt       c.*300

          .         .         .         .         .         .       g.120289
 ctggtttttgtcagaaaaaagtttgtcaatccttgttttagaagatggaaaaatgtgaag       c.*360

          .         .         .         .         .         .       g.120349
 atctttggagattctcttgagtggtatatctaattgaaatgggatcttcgtttggcttgt       c.*420

          .         .         .         .         .         .       g.120409
 atgttgatgaaatcaacttaggtatacaatataaaaaataaagaccctgaaaattgtttt       c.*480

                                                                    g.120412
 gga                                                                c.*483

 (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 3-hydroxyisobutyryl-CoA hydrolase 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.