GDP-mannose pyrophosphorylase B (GMPPB) - coding DNA reference sequence

(used for mutation description)

(last modified July 23, 2013)

This file was created to facilitate the description of sequence variants in the GMPPB gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_033731.1, covering GMPPB transcript variant-1 (NM_013334.3.). Transcript variant-2 (NM_021971.2) misses part of exon 8, splicing this out as an intron.

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

 (upstream sequence)
                                                                    g.5008
                                                     actgcccg       c.-241

 .         .         .         .         .         .                g.5068
 cgccgggtccggcctgagttcggggccagcagccgtctacccggtgtcgcgttctgtgtt       c.-181

 .         .         .         .         .         .                g.5128
 gtggcggccctggatccggcgtcagggcgaccgggcggacgaggtggagccagagtctgt       c.-121

 .         .         .         .         .         .                g.5188
 caggcgggttggtgaagggcgcggggccgggcacggcgttgggagtgcgcggcagggacc       c.-61

 .         .         .         .         .         .                g.5248
 ggccaggcgggctgcaggcacctcagagcccgggacaccccctcaacgtccgcaggcgcg       c.-1

          .         .         .         .         .         .       g.5308
 ATGAAGGCACTGATCTTAGTGGGGGGCTATGGGACGCGGCTACGGCCGCTGACGCTGAGC       c.60
 M  K  A  L  I  L  V  G  G  Y  G  T  R  L  R  P  L  T  L  S         p.20

          .         .         .         .         .         .       g.5368
 ACCCCGAAGCCACTGGTGGACTTCTGCAATAAGCCCATCTTGCTGCACCAAGTGGAGGCG       c.120
 T  P  K  P  L  V  D  F  C  N  K  P  I  L  L  H  Q  V  E  A         p.40

           | 02        .         .         .         .         .    g.5553
 CTAGCCGCG | GCAGGCGTGGACCACGTGATCCTGGCCGTGAGCTACATGTCGCAGGTGCTG    c.180
 L  A  A   | A  G  V  D  H  V  I  L  A  V  S  Y  M  S  Q  V  L      p.60

          .         .         . |        .         .         .    g.5702
 GAGAAGGAAATGAAGGCACAGGAGCAGAGG | CTGGGAATCCGAATCTCCATGTCCCATGAA    c.240
 E  K  E  M  K  A  Q  E  Q  R   | L  G  I  R  I  S  M  S  H  E      p.80

          .          | 04        .         .         .         .    g.5901
 GAGGAGCCTTTGGGGACAG | CTGGGCCCCTGGCGCTGGCCCGTGACCTACTCTCTGAGACT    c.300
 E  E  P  L  G  T  A |   G  P  L  A  L  A  R  D  L  L  S  E  T      p.100

          .         .         .         .         .         .       g.5961
 GCAGACCCTTTCTTCGTCCTCAACAGTGACGTGATCTGCGATTTCCCCTTCCAAGCCATG       c.360
 A  D  P  F  F  V  L  N  S  D  V  I  C  D  F  P  F  Q  A  M         p.120

          .         .         .         .   |      .         .    g.6238
 GTGCAGTTCCACCGGCACCATGGCCAGGAGGGCTCCATCCTG | GTGACCAAGGTGGAGGAA    c.420
 V  Q  F  H  R  H  H  G  Q  E  G  S  I  L   | V  T  K  V  E  E      p.140

          .         .         .         .         .         .       g.6298
 CCCTCCAAGTACGGTGTGGTGGTGTGTGAGGCTGACACAGGCCGCATTCACCGGTTCGTG       c.480
 P  S  K  Y  G  V  V  V  C  E  A  D  T  G  R  I  H  R  F  V         p.160

          .         .         .         .         .         .       g.6358
 GAGAAGCCACAGGTGTTTGTGTCCAATAAGATCAACGCAGGCATGTACATCCTGAGCCCT       c.540
 E  K  P  Q  V  F  V  S  N  K  I  N  A  G  M  Y  I  L  S  P         p.180

          .         .  |       .         .         .         .    g.6503
 GCAGTGCTGCGGCGCATCCAG | CTGCAGCCTACGTCCATTGAGAAGGAGGTCTTCCCCATT    c.600
 A  V  L  R  R  I  Q   | L  Q  P  T  S  I  E  K  E  V  F  P  I      p.200

          .         .         .         . |        .         .    g.6636
 ATGGCCAAGGAGGGGCAGCTATATGCCATGGAGTTACAGG | GCTTCTGGATGGACATTGGG    c.660
 M  A  K  E  G  Q  L  Y  A  M  E  L  Q  G |   F  W  M  D  I  G      p.220

          .         .         .         .         .         .       g.6696
 CAGCCCAAGGACTTCCTCACTGGCATGTGCCTCTTCCTGCAGTCACTGAGGCAGAAGCAG       c.720
 Q  P  K  D  F  L  T  G  M  C  L  F  L  Q  S  L  R  Q  K  Q         p.240

          .         .         .         .         | 08         .    g.6839
 CCTGAGCGGCTGTGCTCAGGCCCTGGCATTGTGGGCAACGTGCTGGTG | GACCCAAGTGCC    c.780
 P  E  R  L  C  S  G  P  G  I  V  G  N  V  L  V   | D  P  S  A      p.260

          .         .         .         .         .         .       g.6899
 CGCATCGGCCAGAACTGCAGCATTGGCCCCAATGTGAGCCTGGGACCTGGCGTGGTGGTC       c.840
 R  I  G  Q  N  C  S  I  G  P  N  V  S  L  G  P  G  V  V  V         p.280

          .         .         .         .         .         .       g.6959
 GAAGATGGTGTGTGTATCCGGCGGTGCACGGTGCTGCGGGATGCCCGGATCCGTTCCCAT       c.900
 E  D  G  V  C  I  R  R  C  T  V  L  R  D  A  R  I  R  S  H         p.300

          .         .         .         .         .  |         .       g.7019
 TCCTGGCTTGAGTCCTGCATTGTGGGCTGGCGCTGCCGCGTGGGTCAGTGG | GTAAGCCTG       c.960
 S  W  L  E  S  C  I  V  G  W  R  C  R  V  G  Q  W   | V  S  L         p.320
                                                     ^  differentially spliced exon

          .         .         .         .         .         .       g.7079
 TGGGCTGGGCTGGGTGGGGAGAGGGGCGGGGAGTGTGCCTGCCTCCCTGACAAGGCCTAT       c.1020
 W  A  G  L  G  G  E  R  G  G  E  C  A  C  L  P  D  K  A  Y         p.340

          .   |        .         .         .         .         .       g.7139
 CCTCTCCTGGAG | GTACGCATGGAGAACGTGACAGTGCTGGGTGAGGACGTCATAGTTAAT       c.1080
 P  L  L  E   | V  R  M  E  N  V  T  V  L  G  E  D  V  I  V  N         p.360
              ^  differentially spliced exon

          .         .         .         .         .         .       g.7199
 GATGAGCTCTACCTCAACGGAGCCAGCGTGCTGCCCCACAAGTCTATTGGCGAGTCAGTG       c.1140
 D  E  L  Y  L  N  G  A  S  V  L  P  H  K  S  I  G  E  S  V         p.380

          .         .                                               g.7223
 CCAGAGCCTCGTATCATCATGTGA                                           c.1164
 P  E  P  R  I  I  M  X                                             p.387

          .         .         .         .         .         .       g.7283
 ggggatgcagtggggctggccgagccccggttttcccatcagcaaggggagtgctggcct       c.*60

          .         .         .         .         .         .       g.7343
 gacacatcagaagaccctggacttgtcattatttgtctggggggcactgggtgaagctga       c.*120

          .         .         .         .         .         .       g.7403
 agctgttggacacctgccttctcatgtggacatcatctggcaggatccctgctgggcaca       c.*180

          .         .         .         .         .         .       g.7463
 ccccacaaaccccactccctcaagaagggccagggccagggctgtatggaataataattt       c.*240

          .         .         .                                     g.7499
 aatgctcactgtggccctgactgaaagtcaagctca                               c.*276

 (downstream sequence)