UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) - coding DNA reference sequence

(used for mutation description)

(last modified April 4, 2013)


This file was created to facilitate the description of sequence variants in the B3GNT1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_033202.1, covering B3GNT1 transcript NM_006876.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.5025
                                    gcggcgggcggggcggcgctcgggg       c.-121

 .         .         .         .         .         .                g.5085
 ctcggctggcctcggctcgcctcggctgcgctcggcaggctgcggtaaatccgggcttgc       c.-61

 .         .         .         .         .         .                g.5145
 ggccgctggcgtagtctgtggccgggtggtcgttgctgcgcgccccgagccccgagagcc       c.-1

          .         .         .         .         .         .       g.5205
 ATGCAGATGTCCTACGCCATCCGGTGCGCCTTCTACCAGCTGCTGCTGGCCGCGCTCATG       c.60
 M  Q  M  S  Y  A  I  R  C  A  F  Y  Q  L  L  L  A  A  L  M         p.20

          .         .         .         .         .         .       g.5265
 CTGGTGGCGATGCTGCAGCTGCTCTACCTGTCGCTGCTGTCCGGACTGCACGGGCAGGAG       c.120
 L  V  A  M  L  Q  L  L  Y  L  S  L  L  S  G  L  H  G  Q  E         p.40

          .         .         .         .         .         .       g.5325
 GAGCAAGACCAATATTTTGAGTTCTTTCCCCCGTCCCCACGGTCCGTGGACCAGGTCAAG       c.180
 E  Q  D  Q  Y  F  E  F  F  P  P  S  P  R  S  V  D  Q  V  K         p.60

          .         .         .         .         .         .       g.5385
 GCGCAGCTCCGCACCGCGCTGGCCTCTGGAGGCGTCCTGGACGCTAGCGGCGATTACCGC       c.240
 A  Q  L  R  T  A  L  A  S  G  G  V  L  D  A  S  G  D  Y  R         p.80

          .         .         .         .         .         .       g.5445
 GTCTACAGGGGCCTGCTGAAGACCACCATGGACCCCAACGATGTGATCCTGGCCACGCAC       c.300
 V  Y  R  G  L  L  K  T  T  M  D  P  N  D  V  I  L  A  T  H         p.100

          .         .         .         .         .         .       g.5505
 GCCAGCGTGGACAACCTGCTGCACCTGTCGGGTCTGCTGGAGCGCTGGGAGGGCCCGCTG       c.360
 A  S  V  D  N  L  L  H  L  S  G  L  L  E  R  W  E  G  P  L         p.120

          .         .         .         .         .         .       g.5565
 TCCGTGTCGGTGTTCGCGGCCACCAAGGAGGAGGCGCAGCTGGCCACGGTGCTGGCCTAC       c.420
 S  V  S  V  F  A  A  T  K  E  E  A  Q  L  A  T  V  L  A  Y         p.140

          .         .         .         .         .         .       g.5625
 GCGCTGAGCAGCCACTGCCCCGACATGCGCGCCAGGGTCGCCATGCACCTCGTGTGCCCC       c.480
 A  L  S  S  H  C  P  D  M  R  A  R  V  A  M  H  L  V  C  P         p.160

          .         .         .         .         .         .       g.5685
 TCGCGTTACGAGGCAGCCGTGCCCGACCCCCGGGAGCCGGGGGAGTTTGCCCTGCTGCGG       c.540
 S  R  Y  E  A  A  V  P  D  P  R  E  P  G  E  F  A  L  L  R         p.180

          .         .         .         .         .         .       g.5745
 TCCTGCCAGGAGGTCTTTGACAAGCTAGCCAGGGTGGCCCAGCCCGGGATTAATTATGCG       c.600
 S  C  Q  E  V  F  D  K  L  A  R  V  A  Q  P  G  I  N  Y  A         p.200

          .         .         .         .         .         .       g.5805
 CTGGGCACCAATGTCTCCTACCCCAATAACCTGCTGAGGAATCTGGCTCGTGAGGGGGCC       c.660
 L  G  T  N  V  S  Y  P  N  N  L  L  R  N  L  A  R  E  G  A         p.220

          .         .         .         .         .         .       g.5865
 AACTATGCCCTGGTGATCGATGTGGACATGGTGCCCAGCGAGGGGCTGTGGAGAGGCCTG       c.720
 N  Y  A  L  V  I  D  V  D  M  V  P  S  E  G  L  W  R  G  L         p.240

          .         .         .         .         .         .       g.5925
 CGGGAAATGCTGGATCAGAGCAACCAGTGGGGAGGCACCGCGCTGGTGGTGCCTGCCTTC       c.780
 R  E  M  L  D  Q  S  N  Q  W  G  G  T  A  L  V  V  P  A  F         p.260

          .         .         .         .         .         .       g.5985
 GAAATCCGAAGAGCCCGCCGCATGCCCATGAACAAAAACGAGCTGGTGCAGCTCTACCAG       c.840
 E  I  R  R  A  R  R  M  P  M  N  K  N  E  L  V  Q  L  Y  Q         p.280

          .         .         .         .         .         .       g.6045
 GTTGGCGAGGTGCGGCCCTTCTATTATGGGTTGTGCACCCCCTGCCAGGCACCCACCAAC       c.900
 V  G  E  V  R  P  F  Y  Y  G  L  C  T  P  C  Q  A  P  T  N         p.300

          .         .         .         .         .         .       g.6105
 TATTCCCGCTGGGTCAACCTGCCGGAAGAGAGCTTGCTGCGGCCCGCCTACGTGGTACCT       c.960
 Y  S  R  W  V  N  L  P  E  E  S  L  L  R  P  A  Y  V  V  P         p.320

          .         .         .         .         .         .       g.6165
 TGGCAGGACCCCTGGGAGCCATTCTACGTGGCAGGAGGCAAGGTGCCCACCTTCGACGAG       c.1020
 W  Q  D  P  W  E  P  F  Y  V  A  G  G  K  V  P  T  F  D  E         p.340

          .         .         .       | 02 .         .         .    g.6474
 CGCTTTCGGCAGTACGGCTTCAACCGAATCAGCCAG | GCCTGCGAGCTGCATGTGGCGGGG    c.1080
 R  F  R  Q  Y  G  F  N  R  I  S  Q   | A  C  E  L  H  V  A  G      p.360

          .         .         .         .         .         .       g.6534
 TTTGATTTTGAGGTCCTGAACGAAGGTTTCTTGGTTCATAAGGGCTTCAAAGAAGCGTTG       c.1140
 F  D  F  E  V  L  N  E  G  F  L  V  H  K  G  F  K  E  A  L         p.380

          .         .         .         .         .         .       g.6594
 AAGTTCCATCCCCAAAAGGAGGCTGAAAATCAGCACAATAAGATCCTATATCGCCAGTTC       c.1200
 K  F  H  P  Q  K  E  A  E  N  Q  H  N  K  I  L  Y  R  Q  F         p.400

          .         .         .         .                           g.6642
 AAACAGGAGTTGAAGGCCAAGTACCCCAACTCTCCCCGACGCTGCTGA                   c.1248
 K  Q  E  L  K  A  K  Y  P  N  S  P  R  R  C  X                     p.415

          .         .         .         .         .         .       g.6702
 gcccttccctcccctaatctgagaagtcagcctcttggctcctcaggccaccatttaggc       c.*60

          .         .         .         .         .         .       g.6762
 ctgactggggtaagaaatgtcgctccactttacagaggtagctgtggtgttgaaacactg       c.*120

          .         .         .         .         .         .       g.6822
 gacttggatatggggtgctgggatcgattcctagctttaccactaactagctgtgtggcc       c.*180

          .         .         .         .         .         .       g.6882
 ttgagtaaatcccgttacctctctgagcctcggttaccctgtctgtaaaaagggaggtga       c.*240

          .         .         .         .         .         .       g.6942
 gaatacctacctcacggaactgttgggaggctcagatgagatgctatatgtgaaaacatt       c.*300

          .         .         .         .         .         .       g.7002
 ctgtaagcttcgtacaaatgtgaagtattaatattatcgcagtattattgttgttattat       c.*360

          .         .         .         .         .         .       g.7062
 tattgttattattaacaatcttgggtgggtagtaggagagcaaaaagtatgaatgggatg       c.*420

          .         .         .         .         .         .       g.7122
 gagctaagaagtctgaatacttaatgaaatggactttttggaaagaaatcagatgaaggc       c.*480

          .         .         .         .         .         .       g.7182
 ataaaatttagttcttagctcttgaacagaagcctaaaattcctggttctctcagggctt       c.*540

          .         .         .         .         .         .       g.7242
 cgccttcaagggttctggaggagggaagggtctgcaggttccatgggtgacagcctgaga       c.*600

          .         .         .         .         .         .       g.7302
 tctgtcccttcaacgggctgggctgggtatgtgcctaccgatgacaatgtgtaaataaat       c.*660

          .                                                         g.7319
 gcgtgttcacacccaca                                                  c.*677

 (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 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 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 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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