deoxyguanosine kinase (DGUOK) - coding DNA reference sequence

(used for variant description)

(last modified February 2, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_080916.1 in the DGUOK gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000002.11, covering DGUOK transcript NM_080916.1.

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

 (upstream sequence)
                                         .         .                g.5025
                                    aacggtgcgctggagcgagtgagca       c.-61

 .         .         .         .         .         .                g.5085
 gcgatacctagggcggaagtgctctcggcggaagtgatcgctgtgtgaatcgtgggtggg       c.-1

          .         .         .         .         .         .       g.5145
 ATGGCCGCGGGCCGCCTCTTTCTAAGTCGGCTTCGAGCACCCTTCAGTTCCATGGCCAAG       c.60
 M  A  A  G  R  L  F  L  S  R  L  R  A  P  F  S  S  M  A  K         p.20

          .         .         .         .         .         .       g.5205
 AGCCCACTCGAGGGCGTTTCCTCCTCCAGAGGCCTGCACGCGGGGCGCGGGCCCCGAAGG       c.120
 S  P  L  E  G  V  S  S  S  R  G  L  H  A  G  R  G  P  R  R         p.40

          .         .   | 02     .         .         .         .    g.17122
 CTCTCCATCGAAGGCAACATTG | CTGTGGGAAAGTCCACGTTTGTGAAGTTACTCACGAAA    c.180
 L  S  I  E  G  N  I  A |   V  G  K  S  T  F  V  K  L  L  T  K      p.60

          .         .         .         .         .         .       g.17182
 ACTTACCCAGAATGGCACGTAGCTACAGAACCTGTAGCAACATGGCAGAATATCCAGGCT       c.240
 T  Y  P  E  W  H  V  A  T  E  P  V  A  T  W  Q  N  I  Q  A         p.80

          .      | 03  .         .         .         .         .    g.24938
 GCTGGCACCCAAAAA | GCCTGCACTGCCCAAAGTCTTGGAAACTTGCTGGATATGATGTAC    c.300
 A  G  T  Q  K   | A  C  T  A  Q  S  L  G  N  L  L  D  M  M  Y      p.100

          .         .         .         .         .         .       g.24998
 CGGGAGCCAGCACGATGGTCCTACACATTCCAGACATTTTCCTTTTTGAGCCGCCTGAAA       c.360
 R  E  P  A  R  W  S  Y  T  F  Q  T  F  S  F  L  S  R  L  K         p.120

          .         .         .         .         .         .       g.25058
 GTACAGCTGGAGCCCTTCCCTGAGAAACTCTTACAGGCCAGGAAGCCAGTACAGATCTTT       c.420
 V  Q  L  E  P  F  P  E  K  L  L  Q  A  R  K  P  V  Q  I  F         p.140

          .         .    | 04    .         .         .         .    g.28796
 GAGAGGTCTGTGTACAGTGACAG | GTATATCTTTGCAAAGAATCTTTTTGAAAATGGTTCC    c.480
 E  R  S  V  Y  S  D  R  |  Y  I  F  A  K  N  L  F  E  N  G  S      p.160

          .         .         .         .         .         .       g.28856
 CTCAGTGACATCGAGTGGCATATCTATCAGGACTGGCATTCTTTTCTCCTGTGGGAGTTT       c.540
 L  S  D  I  E  W  H  I  Y  Q  D  W  H  S  F  L  L  W  E  F         p.180

          .         .         .         .         .  | 05      .    g.35308
 GCCAGCCGGATCACATTACATGGCTTCATCTACCTCCAGGCTTCTCCCCAG | GTTTGTTTG    c.600
 A  S  R  I  T  L  H  G  F  I  Y  L  Q  A  S  P  Q   | V  C  L      p.200

          .         .         .         .         .         .       g.35368
 AAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAG       c.660
 K  R  L  Y  Q  R  A  R  E  E  E  K  G  I  E  L  A  Y  L  E         p.220

          .         .         .         .        | 06.         .    g.36333
 CAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAA | GCTCCACTTTGAG    c.720
 Q  L  H  G  Q  H  E  A  W  L  I  H  K  T  T  K  |  L  H  F  E      p.240

          .         .         .         .         .         .       g.36393
 GCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTA       c.780
 A  L  M  N  I  P  V  L  V  L  D  V  N  D  D  F  S  E  E  V         p.260

          .         .        | 07.         .         .              g.36917
 ACCAAACAAGAAGACCTCATGAGAGAG | GTAAACACCTTTGTAAAGAATCTGTAA          c.834
 T  K  Q  E  D  L  M  R  E   | V  N  T  F  V  K  N  L  X            p.277

          .         .         .         .         .         .       g.36977
 ccaataccatgaagttcaggctgtgatctgggctccctgactttctgaagctagaaaaat       c.*60

          .         .         .         .         .         .       g.37037
 gttgtgtctcccaaccacctttccatccccagcccctctcatccctggagcactctgccg       c.*120

          .         .         .         .         .         .       g.37097
 ctcaagagctggtttgttaattattgttagactttgccattgttttcttttgtacctgaa       c.*180

          .         .         .         .                           g.37142
 gcattttgaaaataaagtttacttaagttatgcttgtttttctaa                      c.*225

 (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 Deoxyguanosine kinase 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.