tubulin, gamma 1 (TUBG1) - coding DNA reference sequence

(used for variant description)

(last modified November 20, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_001070.4 in the TUBG1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_033886.1, covering TUBG1 transcript NM_001070.4.

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

 (upstream sequence)
                               .         .         .                g.5038
                       acaacatccggggccgtggcccgacaagtcacaataac       c.-361

 .         .         .         .         .         .                g.5098
 agcaactgcgcagatgcgcgattcggcgggggaggtggcttcgcaccacagcgcgcttgc       c.-301

 .         .         .         .         .         .                g.5158
 gcgcaggcccaagcaggcgcccacccagaggggagggaggacgccgtaccccgccctcac       c.-241

 .         .         .         .         .         .                g.5218
 tgaggcgcggagccggatccggaggcgccgagccgcatccggagccgcgcacgcgcaatc       c.-181

 .         .         .         .         .         .                g.5278
 tgcatgaacgaaggccagtgcttaaagacgtgccattcattgccagaactcgattctcat       c.-121

 .         .         .         .         .         .                g.5338
 tggagcggaggaagttcgtgggtggagctggttgtttggcgcctgcgtcttgcggcgagc       c.-61

 .         .         .         .         .         .                g.5398
 gggctggcgtgcggcgccgttgcgggcgggagcggctgcaacgccggtgcctgaggagcg       c.-1

          .         .         .         .          | 02        .    g.5779
 ATGCCGAGGGAAATCATCACCCTACAGTTGGGCCAGTGCGGCAATCAGA | TTGGGTTCGAG    c.60
 M  P  R  E  I  I  T  L  Q  L  G  Q  C  G  N  Q  I |   G  F  E      p.20

          .         .         .         .         .         .       g.5839
 TTCTGGAAACAGCTGTGCGCCGAGCATGGTATCAGCCCCGAGGGCATCGTGGAGGAGTTC       c.120
 F  W  K  Q  L  C  A  E  H  G  I  S  P  E  G  I  V  E  E  F         p.40

          .         .         .         .   | 03     .         .    g.6101
 GCCACCGAGGGCACTGACCGCAAGGACGTCTTTTTCTACCAG | GCAGACGATGAGCACTAC    c.180
 A  T  E  G  T  D  R  K  D  V  F  F  Y  Q   | A  D  D  E  H  Y      p.60

          .         .         .         .         .         .       g.6161
 ATCCCCCGGGCCGTGCTGCTGGACTTGGAACCCCGGGTGATCCACTCCATCCTCAACTCC       c.240
 I  P  R  A  V  L  L  D  L  E  P  R  V  I  H  S  I  L  N  S         p.80

          .         .         .         .         .         .       g.6221
 CCCTATGCCAAGCTCTACAACCCAGAGAACATCTACCTGTCGGAACATGGAGGAGGAGCT       c.300
 P  Y  A  K  L  Y  N  P  E  N  I  Y  L  S  E  H  G  G  G  A         p.100

          .         .         . | 04       .         .         .    g.7765
 GGCAACAACTGGGCCAGCGGATTCTCCCAG | GGAGAAAAGATCCATGAGGACATTTTTGAC    c.360
 G  N  N  W  A  S  G  F  S  Q   | G  E  K  I  H  E  D  I  F  D      p.120

          .         .         .          | 05        .         .    g.8108
 ATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAG | GGCTTTGTGCTGTGTCACTCC    c.420
 I  I  D  R  E  A  D  G  S  D  S  L  E   | G  F  V  L  C  H  S      p.140

          .         .         .         .         .          | 06    g.8608
 ATTGCTGGGGGGACAGGCTCTGGACTGGGTTCCTACCTCTTAGAACGGCTGAATGACAG | G    c.480
 I  A  G  G  T  G  S  G  L  G  S  Y  L  L  E  R  L  N  D  R  |      p.160

          .         .         .         .         .         .       g.8668
 TATCCTAAGAAGCTGGTGCAGACATACTCAGTGTTTCCCAACCAGGACGAGATGAGCGAT       c.540
 Y  P  K  K  L  V  Q  T  Y  S  V  F  P  N  Q  D  E  M  S  D         p.180

          .         .         .         .         .         .       g.8728
 GTGGTGGTCCAGCCTTACAATTCACTCCTCACACTCAAGAGGCTGACGCAGAATGCAGAC       c.600
 V  V  V  Q  P  Y  N  S  L  L  T  L  K  R  L  T  Q  N  A  D         p.200

        | 07 .         .         .         .         .         .    g.9361
 TGTGTG | GTGGTGCTGGACAACACAGCCCTGAACCGGATTGCCACAGACCGCCTGCACATC    c.660
 C  V   | V  V  L  D  N  T  A  L  N  R  I  A  T  D  R  L  H  I      p.220

          .         .         .    | 08    .         .         .    g.9536
 CAGAACCCATCCTTCTCCCAGATCAACCAGCTG | GTGTCTACCATCATGTCAGCCAGCACC    c.720
 Q  N  P  S  F  S  Q  I  N  Q  L   | V  S  T  I  M  S  A  S  T      p.240

          .         .         .         .         .         .       g.9596
 ACCACCCTGCGCTACCCTGGCTACATGAACAATGACCTCATCGGCCTCATCGCCTCGCTC       c.780
 T  T  L  R  Y  P  G  Y  M  N  N  D  L  I  G  L  I  A  S  L         p.260

          .         .         .         .         .         .       g.9656
 ATTCCCACCCCACGGCTCCACTTCCTCATGACCGGCTACACCCCTCTCACTACGGACCAG       c.840
 I  P  T  P  R  L  H  F  L  M  T  G  Y  T  P  L  T  T  D  Q         p.280

     | 09    .         .         .         .         .         .    g.9977
 TCA | GTGGCCAGCGTGAGGAAGACCACGGTCCTGGATGTCATGAGGCGGCTGCTGCAGCCC    c.900
 S   | V  A  S  V  R  K  T  T  V  L  D  V  M  R  R  L  L  Q  P      p.300

          .         .         .         .         .         .       g.10037
 AAGAACGTGATGGTGTCCACAGGCCGAGACCGCCAGACCAACCACTGCTACATCGCCATC       c.960
 K  N  V  M  V  S  T  G  R  D  R  Q  T  N  H  C  Y  I  A  I         p.320

          .         .         .       | 10 .         .         .    g.10180
 CTCAACATCATCCAGGGAGAGGTGGACCCCACCCAG | GTCCACAAGAGCTTGCAGAGGATC    c.1020
 L  N  I  I  Q  G  E  V  D  P  T  Q   | V  H  K  S  L  Q  R  I      p.340

          .         .         .         .         .         .       g.10240
 CGGGAACGCAAGTTGGCCAACTTCATCCCGTGGGGCCCCGCCAGCATCCAGGTGGCCCTG       c.1080
 R  E  R  K  L  A  N  F  I  P  W  G  P  A  S  I  Q  V  A  L         p.360

          .         .         .         .         .         .       g.10300
 TCGAGGAAGTCTCCCTACCTGCCCTCGGCCCACCGGGTCAGCGGGCTCATGATGGCCAAC       c.1140
 S  R  K  S  P  Y  L  P  S  A  H  R  V  S  G  L  M  M  A  N         p.380

          .         | 11         .         .         .         .    g.10546
 CACACCAGCATCTCCTCG | CTCTTCGAGAGAACCTGTCGCCAGTATGACAAGCTGCGTAAG    c.1200
 H  T  S  I  S  S   | L  F  E  R  T  C  R  Q  Y  D  K  L  R  K      p.400

          .         .         .         .         .         .       g.10606
 CGGGAGGCCTTCCTGGAGCAGTTCCGCAAGGAGGACATGTTCAAGGACAACTTTGATGAG       c.1260
 R  E  A  F  L  E  Q  F  R  K  E  D  M  F  K  D  N  F  D  E         p.420

          .         .         .         .         .         .       g.10666
 ATGGACACATCCAGGGAGATTGTGCAGCAGCTCATCGATGAGTACCATGCGGCCACACGG       c.1320
 M  D  T  S  R  E  I  V  Q  Q  L  I  D  E  Y  H  A  A  T  R         p.440

          .         .         .                                     g.10702
 CCAGACTACATCTCCTGGGGCACCCAGGAGCAGTGA                               c.1356
 P  D  Y  I  S  W  G  T  Q  E  Q  X                                 p.451

          .         .         .         .         .         .       g.10762
 gtcccccaggacagggaccctcatctgccttactggttggcccaagccctgcctgactga       c.*60

          .         .         .         .         .         .       g.10822
 ccaccccctcagagcacagatcagggacctcacgcatctctttctcatatacatggactc       c.*120

          .         .         .         .         .         .       g.10882
 tctgttggcctgcaaacacatttacttctcctcttatgagactatttatctttaataaag       c.*180

          .                                                         g.10899
 cactggatataaatcaa                                                  c.*197

 (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 Tubulin, gamma 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.