tubulin, alpha 1a (TUBA1A) - coding DNA reference sequence

(used for variant description)

(last modified March 1, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_006009.3 in the TUBA1A gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008966.1, covering TUBA1A transcript NM_006009.3.

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

 (upstream sequence)
                     .         .         .         .                g.4799
                ataatggatgctcggccgactgcttctgcacggtctctttgtcta       c.-301

 .         .         .         .         .         .                g.4859
 aaggatgcaaacagtctacggatgctagagaaaaaggggtgggggagagattacctcatc       c.-241

 .         .         .         .         .         .                g.4919
 ccacgtcgcttgcaccaatcaccagtctcctgtcatggcttctctgggcagattgggggt       c.-181

 .         .         .         .         .         .                g.4979
 ctggaccaacaggaaaaggccccggcccatccccatggtgaccgagttgtatatagggag       c.-121

 .         .         .         .         .         .                g.5039
 ccgcatccgcctatgtgccgcaggttctcttacatcgaccgcctaagagtcgcgctgtaa       c.-61

 .         .         .         .         .         .                g.5099
 gaagcaacaacctctcctcttcgtctccgccatcagctcggcagtcgcgaagcagcaacc       c.-1

     | 02    .         .         .         .         .         .    g.7302
 ATG | CGTGAGTGCATCTCCATCCACGTTGGCCAGGCTGGTGTCCAGATTGGCAATGCCTGC    c.60
 M   | R  E  C  I  S  I  H  V  G  Q  A  G  V  Q  I  G  N  A  C      p.20

          .         .         .         .         .         .       g.7362
 TGGGAGCTCTACTGCCTGGAACACGGCATCCAGCCCGATGGCCAGATGCCAAGTGACAAG       c.120
 W  E  L  Y  C  L  E  H  G  I  Q  P  D  G  Q  M  P  S  D  K         p.40

          .         .         .         .         .         .       g.7422
 ACCATTGGGGGAGGAGATGATTCCTTCAACACCTTCTTCAGTGAGACGGGGGCTGGCAAG       c.180
 T  I  G  G  G  D  D  S  F  N  T  F  F  S  E  T  G  A  G  K         p.60

          .         .         .         .       | 03 .         .    g.7634
 CATGTGCCCCGGGCAGTGTTTGTAGACTTGGAACCCACAGTCATTG | ATGAAGTTCGCACT    c.240
 H  V  P  R  A  V  F  V  D  L  E  P  T  V  I  D |   E  V  R  T      p.80

          .         .         .         .         .         .       g.7694
 GGCACCTACCGCCAGCTCTTCCACCCTGAGCAACTTATCACAGGCAAAGAAGATGCTGCC       c.300
 G  T  Y  R  Q  L  F  H  P  E  Q  L  I  T  G  K  E  D  A  A         p.100

          .         .         .         .         .         .       g.7754
 AATAACTATGCCCGAGGGCACTACACCATTGGCAAGGAGATCATTGACCTCGTGTTGGAC       c.360
 N  N  Y  A  R  G  H  Y  T  I  G  K  E  I  I  D  L  V  L  D         p.120

          .      | 04  .         .         .         .         .    g.8133
 CGAATTCGCAAGCTG | GCCGACCAGTGCACGGGTCTCCAGGGCTTCTTGGTTTTCCACAGC    c.420
 R  I  R  K  L   | A  D  Q  C  T  G  L  Q  G  F  L  V  F  H  S      p.140

          .         .         .         .         .         .       g.8193
 TTTGGTGGGGGAACTGGTTCTGGGTTCACCTCGCTGCTCATGGAACGTCTCTCAGTTGAT       c.480
 F  G  G  G  T  G  S  G  F  T  S  L  L  M  E  R  L  S  V  D         p.160

          .         .         .         .         .         .       g.8253
 TATGGCAAGAAGTCCAAGCTGGAGTTCTCTATTTACCCGGCGCCCCAGGTTTCCACAGCT       c.540
 Y  G  K  K  S  K  L  E  F  S  I  Y  P  A  P  Q  V  S  T  A         p.180

          .         .         .         .         .         .       g.8313
 GTAGTTGAGCCCTACAACTCCATCCTCACCACCCACACCACCCTGGAGCACTCTGATTGT       c.600
 V  V  E  P  Y  N  S  I  L  T  T  H  T  T  L  E  H  S  D  C         p.200

          .         .         .         .         .         .       g.8373
 GCCTTCATGGTAGACAATGAGGCCATCTATGACATCTGTCGTAGAAACCTCGATATTGAG       c.660
 A  F  M  V  D  N  E  A  I  Y  D  I  C  R  R  N  L  D  I  E         p.220

          .         .         .         .         .         .       g.8433
 CGTCCAACCTATACTAACCTGAATAGGTTAATAGGTCAAATTGTGTCCTCCATCACTGCT       c.720
 R  P  T  Y  T  N  L  N  R  L  I  G  Q  I  V  S  S  I  T  A         p.240

          .         .         .         .         .         .       g.8493
 TCCCTGAGATTTGATGGAGCCCTGAATGTTGACCTGACAGAATTCCAGACCAACCTGGTG       c.780
 S  L  R  F  D  G  A  L  N  V  D  L  T  E  F  Q  T  N  L  V         p.260

          .         .         .         .         .         .       g.8553
 CCCTATCCCCGCATCCACTTCCCTCTGGCCACATATGCCCCTGTCATCTCTGCTGAGAAA       c.840
 P  Y  P  R  I  H  F  P  L  A  T  Y  A  P  V  I  S  A  E  K         p.280

          .         .         .         .         .         .       g.8613
 GCCTACCATGAACAGCTTTCTGTAGCAGAGATCACCAATGCTTGCTTTGAGCCAGCCAAC       c.900
 A  Y  H  E  Q  L  S  V  A  E  I  T  N  A  C  F  E  P  A  N         p.300

          .         .         .         .         .         .       g.8673
 CAGATGGTGAAATGTGACCCTCGCCATGGTAAATACATGGCTTGCTGCCTGTTGTACCGT       c.960
 Q  M  V  K  C  D  P  R  H  G  K  Y  M  A  C  C  L  L  Y  R         p.320

          .         .         .         .         .         .       g.8733
 GGTGACGTGGTTCCCAAAGATGTCAATGCTGCCATTGCCACCATCAAGACCAAGCGTACC       c.1020
 G  D  V  V  P  K  D  V  N  A  A  I  A  T  I  K  T  K  R  T         p.340

          .         .         .         .         .         .       g.8793
 ATCCAGTTTGTGGATTGGTGCCCCACTGGCTTCAAGGTTGGCATCAACTACCAGCCTCCC       c.1080
 I  Q  F  V  D  W  C  P  T  G  F  K  V  G  I  N  Y  Q  P  P         p.360

          .         .         .         .         .         .       g.8853
 ACTGTGGTGCCTGGTGGAGACCTGGCCAAGGTACAGAGAGCTGTGTGCATGCTGAGCAAC       c.1140
 T  V  V  P  G  G  D  L  A  K  V  Q  R  A  V  C  M  L  S  N         p.380

          .         .         .         .         .         .       g.8913
 ACCACAGCCATTGCTGAGGCCTGGGCTCGCCTGGACCACAAGTTTGACCTGATGTATGCC       c.1200
 T  T  A  I  A  E  A  W  A  R  L  D  H  K  F  D  L  M  Y  A         p.400

          .         .         .         .         .         .       g.8973
 AAACGTGCCTTTGTTCACTGGTACGTTGGGGAGGGGATGGAGGAAGGTGAGTTTTCAGAG       c.1260
 K  R  A  F  V  H  W  Y  V  G  E  G  M  E  E  G  E  F  S  E         p.420

          .         .         .         .         .         .       g.9033
 GCCCGTGAGGACATGGCTGCCCTTGAGAAGGATTATGAGGAGGTTGGTGTGGATTCTGTT       c.1320
 A  R  E  D  M  A  A  L  E  K  D  Y  E  E  V  G  V  D  S  V         p.440

          .         .         .                                     g.9069
 GAAGGAGAGGGTGAGGAAGAAGGAGAGGAATACTAA                               c.1356
 E  G  E  G  E  E  E  G  E  E  Y  X                                 p.451

          .         .         .         .         .         .       g.9129
 agttaaaacgtcacaaaggtgctgcttttacagggaagcttattctgttttaaacattga       c.*60

          .         .         .         .         .         .       g.9189
 aaagttgtggtctgatcagttaatttgtatgtagcagtgtatgctctcatatacaattac       c.*120

          .         .         .         .         .         .       g.9249
 tgacctatgctctaaaacatgaatgctttgttacagacccaagctgtccatttctgtgat       c.*180

          .         .         .                                     g.9284
 gggttttgaataaagtattccctgtcttaaatgaa                                c.*215

 (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, alpha 1a 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.