alpha 1,4-galactosyltransferase (A4GALT) - coding DNA reference sequence

(used for variant description)

(last modified June 17, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_017436.4 in the A4GALT gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_007495.1, covering A4GALT transcript NM_017436.4.

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

 (upstream sequence)
                                         .         .                g.5021
                                        actgccctccggccgccgcgc       c.-241

 .         .         .         .         .         .   | 02         g.30246
 cgcccgcccgccggggccccgctgtccgccgcccgccgccgctggagctagag | atggatt    c.-181

 .         .         .         .         .         .                g.30306
 tgcagccgctgcaagtgtgtggaagggccgtgttcgtgttggcaaagaaggtcggctgct       c.-121

 .         .         .         .         .         .                g.30366
 gagccagggcgtgtctcccggaggcctgtgggctgccaggatccccacctctctgcaatg       c.-61

 .         .    | 03    .         .         .         .             g.31919
 ggctgcccaggctg | accagccggttcctgctggaagctcctggtctgatctggggatacc    c.-1

          .         .         .         .         .         .       g.31979
 ATGTCCAAGCCCCCCGACCTCCTGCTGCGGCTGCTCCGGGGCGCCCCAAGGCAGCGGGTC       c.60
 M  S  K  P  P  D  L  L  L  R  L  L  R  G  A  P  R  Q  R  V         p.20

          .         .         .         .         .         .       g.32039
 TGCACCCTGTTCATCATCGGCTTCAAGTTCACGTTTTTCGTCTCCATCATGATCTACTGG       c.120
 C  T  L  F  I  I  G  F  K  F  T  F  F  V  S  I  M  I  Y  W         p.40

          .         .         .         .         .         .       g.32099
 CACGTTGTGGGAGAGCCCAAGGAGAAAGGGCAGCTCTATAACCTGCCAGCAGAGATCCCC       c.180
 H  V  V  G  E  P  K  E  K  G  Q  L  Y  N  L  P  A  E  I  P         p.60

          .         .         .         .         .         .       g.32159
 TGCCCCACCTTGACACCCCCCACCCCACCCTCCCACGGCCCCACTCCAGGCAACATCTTC       c.240
 C  P  T  L  T  P  P  T  P  P  S  H  G  P  T  P  G  N  I  F         p.80

          .         .         .         .         .         .       g.32219
 TTCCTGGAGACTTCAGACCGGACCAACCCCAACTTCCTGTTCATGTGCTCGGTGGAGTCG       c.300
 F  L  E  T  S  D  R  T  N  P  N  F  L  F  M  C  S  V  E  S         p.100

          .         .         .         .         .         .       g.32279
 GCCGCCAGAACTCACCCCGAATCCCACGTGCTGGTCCTGATGAAAGGGCTTCCGGGTGGC       c.360
 A  A  R  T  H  P  E  S  H  V  L  V  L  M  K  G  L  P  G  G         p.120

          .         .         .         .         .         .       g.32339
 AACGCCTCTCTGCCCCGGCACCTGGGCATCTCACTTCTGAGCTGCTTCCCGAATGTCCAG       c.420
 N  A  S  L  P  R  H  L  G  I  S  L  L  S  C  F  P  N  V  Q         p.140

          .         .         .         .         .         .       g.32399
 ATGCTCCCGCTGGACCTGCGGGAGCTGTTCCGGGACACACCCCTGGCCGACTGGTACGCG       c.480
 M  L  P  L  D  L  R  E  L  F  R  D  T  P  L  A  D  W  Y  A         p.160

          .         .         .         .         .         .       g.32459
 GCCGTGCAGGGGCGCTGGGAGCCCTACCTGCTGCCCGTGCTCTCCGACGCCTCCAGGATC       c.540
 A  V  Q  G  R  W  E  P  Y  L  L  P  V  L  S  D  A  S  R  I         p.180

          .         .         .         .         .         .       g.32519
 GCACTCATGTGGAAGTTCGGCGGCATCTACCTGGACACGGACTTCATTGTTCTCAAGAAC       c.600
 A  L  M  W  K  F  G  G  I  Y  L  D  T  D  F  I  V  L  K  N         p.200

          .         .         .         .         .         .       g.32579
 CTGCGGAACCTGACCAACGTGCTGGGCACCCAGTCCCGCTACGTCCTCAACGGCGCGTTC       c.660
 L  R  N  L  T  N  V  L  G  T  Q  S  R  Y  V  L  N  G  A  F         p.220

          .         .         .         .         .         .       g.32639
 CTGGCCTTCGAGCGCCGGCACGAGTTCATGGCGCTGTGCATGCGGGACTTCGTGGACCAC       c.720
 L  A  F  E  R  R  H  E  F  M  A  L  C  M  R  D  F  V  D  H         p.240

          .         .         .         .         .         .       g.32699
 TACAACGGCTGGATCTGGGGTCACCAGGGCCCGCAGCTGCTCACGCGGGTCTTCAAGAAG       c.780
 Y  N  G  W  I  W  G  H  Q  G  P  Q  L  L  T  R  V  F  K  K         p.260

          .         .         .         .         .         .       g.32759
 TGGTGTTCCATCCGCAGCCTGGCCGAGAGCCGCGCCTGCCGCGGCGTCACCACCCTGCCC       c.840
 W  C  S  I  R  S  L  A  E  S  R  A  C  R  G  V  T  T  L  P         p.280

          .         .         .         .         .         .       g.32819
 CCTGAGGCCTTCTACCCCATCCCCTGGCAGGACTGGAAGAAGTACTTTGAGGACATCAAC       c.900
 P  E  A  F  Y  P  I  P  W  Q  D  W  K  K  Y  F  E  D  I  N         p.300

          .         .         .         .         .         .       g.32879
 CCCGAGGAGCTGCCGCGGCTGCTCAGTGCCACCTATGCTGTCCACGTGTGGAACAAGAAG       c.960
 P  E  E  L  P  R  L  L  S  A  T  Y  A  V  H  V  W  N  K  K         p.320

          .         .         .         .         .         .       g.32939
 AGCCAGGGCACGCGGTTCGAGGCCACGTCCAGGGCACTGCTGGCCCAGCTGCATGCCCGC       c.1020
 S  Q  G  T  R  F  E  A  T  S  R  A  L  L  A  Q  L  H  A  R         p.340

          .         .         .         .                           g.32981
 TACTGCCCCACGACGCACGAGGCCATGAAAATGTACTTGTGA                         c.1062
 Y  C  P  T  T  H  E  A  M  K  M  Y  L  X                           p.353

          .         .         .         .         .         .       g.33041
 ggggcccgccaggtcacctccccaacctgctcctgatggggcactgggccgcccttcccg       c.*60

          .         .         .         .         .         .       g.33101
 gggaggcaagattgagggcccgggagagggaggcccgagctgccaccgggcttaggcagg       c.*120

          .         .         .         .         .         .       g.33161
 ctgttgaggagctgtgggagcaggcccagtgggaggctgtggacaccccgaggacagtgt       c.*180

          .         .         .         .         .         .       g.33221
 cctgtctcgaggcagggctgacacatggtgccatagccagcggagggcgctcagtgagtg       c.*240

          .         .         .         .         .         .       g.33281
 ccccgggccttctagacaacaggcaggaaggatgaacctcagggcacccccaggtggtgc       c.*300

          .         .         .         .         .         .       g.33341
 ggaaagccaggcagttgggacagaggtgcccacgagggcagaggccggtgctaaggggat       c.*360

          .         .         .         .         .         .       g.33401
 ggggaagaagggacaagattcccagagaggagaggaggctgttggtaggaaagtggcagg       c.*420

          .         .         .         .         .         .       g.33461
 gctgggggagacccagccccaagggtccggggcggaggatgctttgttcttttctggttt       c.*480

          .         .         .         .         .         .       g.33521
 tggttcctctttcgcggggggtgggggaggtcaacagggactgagtggggcagaggccca       c.*540

          .         .         .         .         .         .       g.33581
 gaagtgccagcctggggagccgtttgggggcagccccttctgcccaccccatccttcttc       c.*600

          .         .         .         .         .         .       g.33641
 ctctccagagatgccaggggggcgtgtatgctctgccccttccctcagacaggggctggg       c.*660

          .         .         .         .         .         .       g.33701
 tggggaggctctttaggctcaggagaagcattttaaagaaacccccaccctgccgcccgc       c.*720

          .         .         .         .                           g.33750
 attataaacacaggagaataatcaatagaataaaagtgaccgactgtca                  c.*769

 (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 Alpha 1,4-galactosyltransferase 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.