galactokinase 1 (GALK1) - coding DNA reference sequence

(used for variant description)

(last modified August 9, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_000154.1 in the GALK1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008079.1, covering GALK1 transcript NM_000154.1.

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

 (upstream sequence)
                                                                    g.5003
                                                          ccc       c.-61

 .         .         .         .         .         .                g.5063
 gagcatcccgcgccgacggggctgtgccggagcagctgtgcagagctgcaggcgcgcgtc       c.-1

          .         .         .         .         .         .       g.5123
 ATGGCTGCTTTGAGACAGCCCCAGGTCGCGGAGCTGCTGGCCGAGGCCCGGCGAGCCTTC       c.60
 M  A  A  L  R  Q  P  Q  V  A  E  L  L  A  E  A  R  R  A  F         p.20

          .         .         .         .         .         .       g.5183
 CGGGAGGAGTTCGGGGCCGAGCCCGAGCTGGCCGTGTCAGCGCCGGGCCGCGTCAACCTC       c.120
 R  E  E  F  G  A  E  P  E  L  A  V  S  A  P  G  R  V  N  L         p.40

          .         .         .         .      | 02  .         .    g.6128
 ATCGGGGAACACACGGACTACAACCAGGGCCTGGTGCTGCCTATG | GCTCTGGAGCTCATG    c.180
 I  G  E  H  T  D  Y  N  Q  G  L  V  L  P  M   | A  L  E  L  M      p.60

          .         .         .         .         .         .       g.6188
 ACGGTGCTGGTGGGCAGCCCCCGCAAGGATGGGCTGGTGTCTCTCCTCACCACCTCTGAG       c.240
 T  V  L  V  G  S  P  R  K  D  G  L  V  S  L  L  T  T  S  E         p.80

          .         .         .         .         .         .       g.6248
 GGTGCCGATGAGCCCCAGCGGCTGCAGTTTCCACTGCCCACAGCCCAGCGCTCGCTGGAG       c.300
 G  A  D  E  P  Q  R  L  Q  F  P  L  P  T  A  Q  R  S  L  E         p.100

          .         .         .         .         .      | 03  .    g.6765
 CCTGGGACTCCTCGGTGGGCCAACTATGTCAAGGGAGTGATTCAGTACTACCCAG | CTGCC    c.360
 P  G  T  P  R  W  A  N  Y  V  K  G  V  I  Q  Y  Y  P  A |   A      p.120

          .         .         .         .         .         .       g.6825
 CCCCTCCCTGGCTTCAGTGCAGTGGTGGTCAGCTCAGTGCCCCTGGGGGGTGGCCTGTCC       c.420
 P  L  P  G  F  S  A  V  V  V  S  S  V  P  L  G  G  G  L  S         p.140

          .         .         .         .         .      | 04  .    g.7055
 AGCTCAGCATCCTTGGAAGTGGCCACGTACACCTTCCTCCAGCAGCTCTGTCCAG | ACTCG    c.480
 S  S  A  S  L  E  V  A  T  Y  T  F  L  Q  Q  L  C  P  D |   S      p.160

          .         .         .         .         .         .       g.7115
 GGCACAATAGCTGCCCGCGCCCAGGTGTGTCAGCAGGCCGAGCACAGCTTCGCAGGGATG       c.540
 G  T  I  A  A  R  A  Q  V  C  Q  Q  A  E  H  S  F  A  G  M         p.180

          .         .         .         .         .         .       g.7175
 CCCTGTGGCATCATGGACCAGTTCATCTCACTTATGGGACAGAAAGGCCACGCGCTGCTC       c.600
 P  C  G  I  M  D  Q  F  I  S  L  M  G  Q  K  G  H  A  L  L         p.200

          .  | 05      .         .         .         .         .    g.7363
 ATTGACTGCAG | GTCCTTGGAGACCAGCCTGGTGCCACTCTCGGACCCCAAGCTGGCCGTG    c.660
 I  D  C  R  |  S  L  E  T  S  L  V  P  L  S  D  P  K  L  A  V      p.220

          .         .         .         .         .         .       g.7423
 CTCATCACCAACTCTAATGTCCGCCACTCCCTGGCCTCCAGCGAGTACCCTGTGCGGCGG       c.720
 L  I  T  N  S  N  V  R  H  S  L  A  S  S  E  Y  P  V  R  R         p.240

          .         .         .         .         .         .       g.7483
 CGCCAATGTGAAGAAGTGGCCCGGGCGCTGGGCAAGGAAAGCCTCCGGGAGGTACAACTG       c.780
 R  Q  C  E  E  V  A  R  A  L  G  K  E  S  L  R  E  V  Q  L         p.260

          .    | 06    .         .         .         .         .    g.11647
 GAAGAGCTAGAGG | CTGCCAGGGACCTGGTGAGCAAAGAGGGCTTCCGGCGGGCCCGGCAC    c.840
 E  E  L  E  A |   A  R  D  L  V  S  K  E  G  F  R  R  A  R  H      p.280

          .         .         .         .         .         .       g.11707
 GTGGTGGGGGAGATTCGGCGCACGGCCCAGGCAGCGGCCGCCCTGAGACGTGGCGACTAC       c.900
 V  V  G  E  I  R  R  T  A  Q  A  A  A  A  L  R  R  G  D  Y         p.300

          .         .         .         .     | 07   .         .    g.11843
 AGAGCCTTTGGCCGCCTCATGGTGGAGAGCCACCGCTCACTCAG | AGACGACTATGAGGTG    c.960
 R  A  F  G  R  L  M  V  E  S  H  R  S  L  R  |  D  D  Y  E  V      p.320

          .         .         .         .         .         .       g.11903
 AGCTGCCCAGAGCTGGACCAGCTGGTGGAGGCTGCGCTTGCTGTGCCTGGGGTTTATGGC       c.1020
 S  C  P  E  L  D  Q  L  V  E  A  A  L  A  V  P  G  V  Y  G         p.340

          .         .         .         .         .         .       g.11963
 AGCCGCATGACGGGCGGTGGCTTCGGTGGCTGCACGGTGACACTGCTGGAGGCCTCCGCT       c.1080
 S  R  M  T  G  G  G  F  G  G  C  T  V  T  L  L  E  A  S  A         p.360

          .         .        | 08.         .         .         .    g.12105
 GCTCCCCACGCCATGCGGCACATCCAG | GAGCACTACGGCGGGACTGCCACCTTCTACCTC    c.1140
 A  P  H  A  M  R  H  I  Q   | E  H  Y  G  G  T  A  T  F  Y  L      p.380

          .         .         .                                     g.12144
 TCTCAAGCAGCCGATGGAGCCAAGGTGCTGTGCTTGTGA                            c.1179
 S  Q  A  A  D  G  A  K  V  L  C  L  X                              p.392

          .         .         .         .         .         .       g.12204
 ggcacccccaggacagcacacggtgagggtgcggggcctgcaggccagtcccacggctct       c.*60

          .         .         .         .         .                 g.12263
 gtgcccggtgccatcttccatatccgggtgctcaataaacttgtgcctccaatgtggta        c.*119

 (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 Galactokinase 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.