AU RNA binding protein/enoyl-CoA hydratase (AUH) - coding DNA reference sequence

(used for mutation description)

(last modified July 20, 2012)

This file was created to facilitate the description of sequence variants on transcript NM_001698.2 in the AUH gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000009.11, covering AUH transcript NM_001698.2.

Please note that introns are available by clicking on the exon numbers above the sequence. 
 (upstream sequence)
                               .         .         .                g.5035
                          gcggccgtcgcaggtccacgccgtaaacagacaac       c.-1

          .         .         .         .         .         .       g.5095
 ATGGCGGCCGCGGTGGCGGCGGCACCTGGGGCCTTGGGATCCCTGCATGCTGGCGGCGCC       c.60
 M  A  A  A  V  A  A  A  P  G  A  L  G  S  L  H  A  G  G  A         p.20

          .         .         .         .         .         .       g.5155
 CGCCTGGTGGCCGCTTGCAGTGCGTGGCTCTGCCCGGGGTTGAGGCTGCCCGGCTCGTTG       c.120
 R  L  V  A  A  C  S  A  W  L  C  P  G  L  R  L  P  G  S  L         p.40

          .         .         .         .         .         .       g.5215
 GCAGGCCGGCGAGCGGGCCCGGCGATCTGGGCCCAGGGCTGGGTACCTGCGGCCGGGGGT       c.180
 A  G  R  R  A  G  P  A  I  W  A  Q  G  W  V  P  A  A  G  G         p.60

          .         .         .         .         .         .       g.5275
 CCCGCCCCGAAAAGGGGCTACAGCTCTGAGATGAAGACGGAGGACGAGCTGCGGGTGCGG       c.240
 P  A  P  K  R  G  Y  S  S  E  M  K  T  E  D  E  L  R  V  R         p.80

          .         .   | 02     .         .         .         .    g.10807
 CACCTGGAGGAGGAGAACCGAG | GAATTGTGGTGCTTGGAATAAACAGAGCTTATGGCAAA    c.300
 H  L  E  E  E  N  R  G |   I  V  V  L  G  I  N  R  A  Y  G  K      p.100

          .         .         . | 03       .         .         .    g.10984
 AATTCACTCAGTAAAAATCTTATAAAAATG | CTATCAAAAGCTGTGGATGCTTTGAAATCT    c.360
 N  S  L  S  K  N  L  I  K  M   | L  S  K  A  V  D  A  L  K  S      p.120

          .         .         .         .         .         | 04    g.41522
 GATAAGAAAGTACGGACCATAATAATCAGGAGTGAAGTCCCAGGGATATTCTGTGCTG | GT    c.420
 D  K  K  V  R  T  I  I  I  R  S  E  V  P  G  I  F  C  A  G |       p.140

          .         .         .         .         .         .       g.41582
 GCTGACCTTAAGGAAAGAGCCAAAATGAGTTCCAGTGAAGTTGGTCCTTTTGTCTCCAAA       c.480
 A  D  L  K  E  R  A  K  M  S  S  S  E  V  G  P  F  V  S  K         p.160

          .         .      | 05  .         .         .         .    g.68883
 ATAAGAGCAGTGATTAACGATATTG | CTAATCTTCCAGTACCAACAATTGCAGCAATAGAT    c.540
 I  R  A  V  I  N  D  I  A |   N  L  P  V  P  T  I  A  A  I  D      p.180

          .         .         .         .         .         | 06    g.70849
 GGACTCGCTTTAGGTGGTGGTCTTGAACTGGCTTTAGCCTGTGATATACGAGTAGCAG | CT    c.600
 G  L  A  L  G  G  G  L  E  L  A  L  A  C  D  I  R  V  A  A |       p.200

          .         .         .         .         .      | 07  .    g.145937
 TCCTCTGCAAAAATGGGCCTGGTTGAAACAAAATTGGCGATTATTCCTGGTGGAG | GGGGG    c.660
 S  S  A  K  M  G  L  V  E  T  K  L  A  I  I  P  G  G  G |   G      p.220

          .         .         .         .         .         .       g.145997
 ACACAGCGATTGCCACGCGCCATTGGAATGTCCCTGGCCAAGGAGCTCATATTCTCTGCG       c.720
 T  Q  R  L  P  R  A  I  G  M  S  L  A  K  E  L  I  F  S  A         p.240

          .         .         .         .         .         .       g.146057
 CGAGTCCTCGATGGCAAAGAAGCCAAAGCAGTGGGCTTAATCAGCCACGTTCTGGAACAG       c.780
 R  V  L  D  G  K  E  A  K  A  V  G  L  I  S  H  V  L  E  Q         p.260

          .         .         .         .         .         .       g.146117
 AACCAGGAGGGAGACGCGGCCTACAGGAAGGCCTTGGACCTGGCGAGAGAGTTTTTACCT       c.840
 N  Q  E  G  D  A  A  Y  R  K  A  L  D  L  A  R  E  F  L  P         p.280

     | 08    .         .         .         .         .     | 09   . g.150824
 CAG | GGACCTGTTGCAATGAGAGTGGCAAAATTAGCAATTAATCAAGGGATGGAG | GTCGAT c.900
 Q   | G  P  V  A  M  R  V  A  K  L  A  I  N  Q  G  M  E   | V  D   p.300

          .         .         .         .   | 10     .         .    g.152517
 TTAGTAACAGGGTTAGCCATAGAAGAAGCTTGTTATGCTCAG | ACCATTCCAACAAAAGAC    c.960
 L  V  T  G  L  A  I  E  E  A  C  Y  A  Q   | T  I  P  T  K  D      p.320

          .         .         .         .         .         .       g.152577
 AGACTTGAAGGTCTTCTTGCTTTTAAAGAGAAAAGGCCCCCTCGCTATAAAGGAGAATAA       c.1020
 R  L  E  G  L  L  A  F  K  E  K  R  P  P  R  Y  K  G  E  X         p.339

          .         .         .         .         .         .       g.152637
 aaggaacagaaattcttaagatgccaatgtaataaatgtacttcctggaagtgtctttcg       c.*60

          .         .         .         .         .         .       g.152697
 gatccactatatgcctcagcacatggaaccttaatgaccaaagtgaagagcagattattc       c.*120

          .         .         .         .         .         .       g.152757
 atacggtgtaataagcatctggaatggacccatccgtgtacttcattcaaatgtgtaaat       c.*180

          .         .         .         .         .         .       g.152817
 gtcatattcattcagatttataaagctagtagtgtatagtcagaaacagaatcaaagtta       c.*240

          .         .         .         .         .         .       g.152877
 gatatacatttttaaatatttactgcatatgaggctttctgttaattttttaatgtgaat       c.*300

          .         .         .         .         .         .       g.152937
 aatttatatattgcacattctagggaataatattgattgtatgtctactgtgctgcatta       c.*360

          .         .         .         .         .         .       g.152997
 agaaaataaaatttctatataccaaaaatgtgaagttataccaaataaagtttctaagtg       c.*420

          .         .         .         .         .         .       g.153057
 attaatgcatacgaacagctacatatacatatatctaaacctgaaaaatgaattgatatt       c.*480

          .         .         .         .         .                 g.153110
 ctgagtgaaaactacctaatataaataaaattagtgaaaagaaaacatgggaa              c.*533

 (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 10th nucleotide is indicated by a "." above the sequence. The AU RNA binding protein/enoyl-CoA hydratase protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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