galactose-1-phosphate uridylyltransferase (GALT) - coding DNA reference sequence

(used for variant description)

(last modified January 9, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_000155.3 in the GALT gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009029.2, covering GALT transcript NM_000155.3.

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

 (upstream sequence)
           .         .         .         .         .                g.5056
     acgtgctggcggctggccaatcatcgggggcggcgcggggaggggtggtgtggacg       c.-61

 .         .         .         .         .         .                g.5116
 gagaaagtgaaaggtgaggcacggccctgcagattttccagcggatcccccggtggcctc       c.-1

          .         .         .         .         .         .       g.5176
 ATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCA       c.60
 M  S  R  S  G  T  D  P  Q  Q  R  Q  Q  A  S  E  A  D  A  A         p.20

          .         .   | 02     .         .         .         .    g.5538
 GCAGCAACCTTCCGGGCAAACG | ACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAG    c.120
 A  A  T  F  R  A  N  D |   H  Q  H  I  R  Y  N  P  L  Q  D  E      p.40

          .         .         .         .         .         .       g.5598
 TGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAG       c.180
 W  V  L  V  S  A  H  R  M  K  R  P  W  Q  G  Q  V  E  P  Q         p.60

          .         .         .         .         .         .       g.5658
 CTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGA       c.240
 L  L  K  T  V  P  R  H  D  P  L  N  P  L  C  P  G  A  I  R         p.80

          .   | 03     .         .         .         .         .    g.5951
 GCCAACGGAGAG | GTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCA    c.300
 A  N  G  E   | V  N  P  Q  Y  D  S  T  F  L  F  D  N  D  F  P      p.100

          .         .         | 04         .         .         .    g.6100
 GCTCTGCAGCCTGATGCCCCCAGTCCAG | GACCCAGTGATCATCCCCTTTTCCAAGCAAAG    c.360
 A  L  Q  P  D  A  P  S  P  G |   P  S  D  H  P  L  F  Q  A  K      p.120

          .        | 05.         .         .         .         .    g.6286
 TCTGCTCGAGGAGTCTG | TAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCA    c.420
 S  A  R  G  V  C  |  K  V  M  C  F  H  P  W  S  D  V  T  L  P      p.140

          .         .         .         .         .         .       g.6346
 CTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAG       c.480
 L  M  S  V  P  E  I  R  A  V  V  D  A  W  A  S  V  T  E  E         p.160

          .         .        | 06.         .         .         .    g.6559
 CTGGGTGCCCAGTACCCTTGGGTGCAG | ATCTTTGAAAACAAAGGTGCCATGATGGGCTGT    c.540
 L  G  A  Q  Y  P  W  V  Q   | I  F  E  N  K  G  A  M  M  G  C      p.180

          .         .     | 07   .         .         .         .    g.6781
 TCTAACCCCCACCCCCACTGCCAG | GTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAG    c.600
 S  N  P  H  P  H  C  Q   | V  W  A  S  S  F  L  P  D  I  A  Q      p.200

          .         .         .         .         .         .       g.6841
 CGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAG       c.660
 R  E  E  R  S  Q  Q  A  Y  K  S  Q  H  G  E  P  L  L  M  E         p.220

          .         .        | 08.         .         .         .    g.7206
 TACAGCCGCCAGGAGCTACTCAGGAAG | GAACGTCTGGTCCTAACCAGTGAGCACTGGTTA    c.720
 Y  S  R  Q  E  L  L  R  K   | E  R  L  V  L  T  S  E  H  W  L      p.240

          .         .         .         .         .         .       g.7266
 GTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCAT       c.780
 V  L  V  P  F  W  A  T  W  P  Y  Q  T  L  L  L  P  R  R  H         p.260

          .         .         .         . | 09       .         .    g.7429
 GTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATG | ATCTAGCCTCCATCATGAAG    c.840
 V  R  R  L  P  E  L  T  P  A  E  R  D  D |   L  A  S  I  M  K      p.280

          .         .         .         .         .         .       g.7489
 AAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGG       c.900
 K  L  L  T  K  Y  D  N  L  F  E  T  S  F  P  Y  S  M  G  W         p.300

      | 10   .         .         .         .         .         .    g.7877
 CATG | GGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCT    c.960
 H  G |   A  P  T  G  S  E  A  G  A  N  W  N  H  W  Q  L  H  A      p.320

          .         .         .         .         .         .       g.7937
 CATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAA       c.1020
 H  Y  Y  P  P  L  L  R  S  A  T  V  R  K  F  M  V  G  Y  E         p.340

          .         .         .          | 11        .         .    g.8801
 ATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAG | GCTGCAGAGAGACTAAGGGCA    c.1080
 M  L  A  Q  A  Q  R  D  L  T  P  E  Q   | A  A  E  R  L  R  A      p.360

          .         .         .         .         .         .       g.8861
 CTTCCTGAGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCATCGCCTGA       c.1140
 L  P  E  V  H  Y  H  L  G  Q  K  D  R  E  T  A  T  I  A  X         p.379

          .         .         .         .         .         .       g.8921
 ccacgccgaccacagggccttgaatccttttttgttttcaacagtcttgctgaattaagc       c.*60

          .         .         .         .         .         .       g.8981
 agaaagggccttgaatcctggcctggaatttgggcagatatagcattaataaaactgtgc       c.*120

          .         .                                               g.9010
 atctcaaacttttatcacatactctaata                                      c.*149

 (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 Galactose-1-phosphate uridylyltransferase 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.