tubulin, beta class I (TUBB) - coding DNA reference sequence

(used for variant description)

(last modified March 24, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_178014.2 in the TUBB gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000006.11, covering TUBB transcript NM_178014.2.

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

 (upstream sequence)
                                                                    g.5007
                                                      gcacctc       c.-121

 .         .         .         .         .         .                g.5067
 gctgctccagcctctggggcgcattccaaccttccagcctgcgacctgcggagaaaaaaa       c.-61

 .         .         .         .         .         .                g.5127
 attacttattttcttgccccatacataccttgaggcgagcaaaaaaattaaattttaacc       c.-1

          .         .         .         .         .        | 02.    g.7160
 ATGAGGGAAATCGTGCACATCCAGGCTGGTCAGTGTGGCAACCAGATCGGTGCCAAG | TTC    c.60
 M  R  E  I  V  H  I  Q  A  G  Q  C  G  N  Q  I  G  A  K   | F      p.20

          .         .         .         .         .         .       g.7220
 TGGGAGGTGATCAGTGATGAACATGGCATCGACCCCACCGGCACCTACCACGGGGACAGC       c.120
 W  E  V  I  S  D  E  H  G  I  D  P  T  G  T  Y  H  G  D  S         p.40

          .         .         .         .       | 03 .         .    g.7552
 GACCTGCAGCTGGACCGCATCTCTGTGTACTACAATGAAGCCACAG | GTGGCAAATATGTT    c.180
 D  L  Q  L  D  R  I  S  V  Y  Y  N  E  A  T  G |   G  K  Y  V      p.60

          .         .         .         .         .         .       g.7612
 CCTCGTGCCATCCTGGTGGATCTAGAACCTGGGACCATGGACTCTGTTCGCTCAGGTCCT       c.240
 P  R  A  I  L  V  D  L  E  P  G  T  M  D  S  V  R  S  G  P         p.80

          .         .         .        | 04.         .         .    g.7983
 TTTGGCCAGATCTTTAGACCAGACAACTTTGTATTTG | GTCAGTCTGGGGCAGGTAACAAC    c.300
 F  G  Q  I  F  R  P  D  N  F  V  F  G |   Q  S  G  A  G  N  N      p.100

          .         .         .         .         .         .       g.8043
 TGGGCCAAAGGCCACTACACAGAGGGCGCCGAGCTGGTTGATTCTGTCCTGGATGTGGTA       c.360
 W  A  K  G  H  Y  T  E  G  A  E  L  V  D  S  V  L  D  V  V         p.120

          .         .         .         .         .         .       g.8103
 CGGAAGGAGGCAGAGAGCTGTGACTGCCTGCAGGGCTTCCAGCTGACCCACTCACTGGGC       c.420
 R  K  E  A  E  S  C  D  C  L  Q  G  F  Q  L  T  H  S  L  G         p.140

          .         .         .         .         .         .       g.8163
 GGGGGCACAGGCTCTGGAATGGGCACTCTCCTTATCAGCAAGATCCGAGAAGAATACCCT       c.480
 G  G  T  G  S  G  M  G  T  L  L  I  S  K  I  R  E  E  Y  P         p.160

          .         .         .         .         .         .       g.8223
 GATCGCATCATGAATACCTTCAGTGTGGTGCCTTCACCCAAAGTGTCTGACACCGTGGTC       c.540
 D  R  I  M  N  T  F  S  V  V  P  S  P  K  V  S  D  T  V  V         p.180

          .         .         .         .         .         .       g.8283
 GAGCCCTACAATGCCACCCTCTCCGTCCATCAGTTGGTAGAGAATACTGATGAGACCTAT       c.600
 E  P  Y  N  A  T  L  S  V  H  Q  L  V  E  N  T  D  E  T  Y         p.200

          .         .         .         .         .         .       g.8343
 TGCATTGACAACGAGGCCCTCTATGATATCTGCTTCCGCACTCTGAAGCTGACCACACCA       c.660
 C  I  D  N  E  A  L  Y  D  I  C  F  R  T  L  K  L  T  T  P         p.220

          .         .         .         .         .         .       g.8403
 ACCTACGGGGATCTGAACCACCTTGTCTCAGCCACCATGAGTGGTGTCACCACCTGCCTC       c.720
 T  Y  G  D  L  N  H  L  V  S  A  T  M  S  G  V  T  T  C  L         p.240

          .         .         .         .         .         .       g.8463
 CGTTTCCCTGGCCAGCTCAATGCTGACCTCCGCAAGTTGGCAGTCAACATGGTCCCCTTC       c.780
 R  F  P  G  Q  L  N  A  D  L  R  K  L  A  V  N  M  V  P  F         p.260

          .         .         .         .         .         .       g.8523
 CCACGTCTCCATTTCTTTATGCCTGGCTTTGCCCCTCTCACCAGCCGTGGAAGCCAGCAG       c.840
 P  R  L  H  F  F  M  P  G  F  A  P  L  T  S  R  G  S  Q  Q         p.280

          .         .         .         .         .         .       g.8583
 TATCGAGCTCTCACAGTGCCGGAACTCACCCAGCAGGTCTTCGATGCCAAGAACATGATG       c.900
 Y  R  A  L  T  V  P  E  L  T  Q  Q  V  F  D  A  K  N  M  M         p.300

          .         .         .         .         .         .       g.8643
 GCTGCCTGTGACCCCCGCCACGGCCGATACCTCACCGTGGCTGCTGTCTTCCGTGGTCGG       c.960
 A  A  C  D  P  R  H  G  R  Y  L  T  V  A  A  V  F  R  G  R         p.320

          .         .         .         .         .         .       g.8703
 ATGTCCATGAAGGAGGTCGATGAGCAGATGCTTAACGTGCAGAACAAGAACAGCAGCTAC       c.1020
 M  S  M  K  E  V  D  E  Q  M  L  N  V  Q  N  K  N  S  S  Y         p.340

          .         .         .         .         .         .       g.8763
 TTTGTGGAATGGATCCCCAACAATGTCAAGACAGCCGTCTGTGACATCCCACCTCGTGGC       c.1080
 F  V  E  W  I  P  N  N  V  K  T  A  V  C  D  I  P  P  R  G         p.360

          .         .         .         .         .         .       g.8823
 CTCAAGATGGCAGTCACCTTCATTGGCAATAGCACAGCCATCCAGGAGCTCTTCAAGCGC       c.1140
 L  K  M  A  V  T  F  I  G  N  S  T  A  I  Q  E  L  F  K  R         p.380

          .         .         .         .         .         .       g.8883
 ATCTCGGAGCAGTTCACTGCCATGTTCCGCCGGAAGGCCTTCCTCCACTGGTACACAGGC       c.1200
 I  S  E  Q  F  T  A  M  F  R  R  K  A  F  L  H  W  Y  T  G         p.400

          .         .         .         .         .         .       g.8943
 GAGGGCATGGACGAGATGGAGTTCACCGAGGCTGAGAGCAACATGAACGACCTCGTCTCT       c.1260
 E  G  M  D  E  M  E  F  T  E  A  E  S  N  M  N  D  L  V  S         p.420

          .         .         .         .         .         .       g.9003
 GAGTATCAGCAGTACCAGGATGCCACCGCAGAAGAGGAGGAGGATTTCGGTGAGGAGGCC       c.1320
 E  Y  Q  Q  Y  Q  D  A  T  A  E  E  E  E  D  F  G  E  E  A         p.440

          .                                                         g.9018
 GAAGAGGAGGCCTAA                                                    c.1335
 E  E  E  A  X                                                      p.444

          .         .         .         .         .         .       g.9078
 ggcagagcccccatcacctcaggcttctcagttcccttagccgtcttactcaactgcccc       c.*60

          .         .         .         .         .         .       g.9138
 tttcctctccctcagaatttgtgtttgctgcctctatcttgttttttgttttttcttctg       c.*120

          .         .         .         .         .         .       g.9198
 gggggggtctagaacagtgcctggcacatagtaggcgctcaataaatacttgtttgttga       c.*180

          .         .         .         .         .         .       g.9258
 atgtctcctctctctttccactctgggaaacctaggtttctgccattctgggtgaccctg       c.*240

          .         .         .         .         .         .       g.9318
 tatttctttctggtgcccattccatttgtccagttaatacttcctcttaaaaatctccaa       c.*300

          .         .         .         .         .         .       g.9378
 gaagctgggtctccagatcccatttagaaccaaccaggtgctgaaaacacatgtagataa       c.*360

          .         .         .         .         .         .       g.9438
 tggccatcatcctaagcccaaagtagaaaatggtagaaggtagtgggtagaagtcactat       c.*420

          .         .         .         .         .         .       g.9498
 ataaggaaggggatgggattttccattctaaaagttttggagagggaaatccaggctatt       c.*480

          .         .         .         .         .         .       g.9558
 aaagtcactaaatttctaagtatgtccatttcccatctcagcttcaagggaggtgtcagc       c.*540

          .         .         .         .         .         .       g.9618
 agtattatctccactttcaatctccctccaagctctactctggaggagtctgtcccactc       c.*600

          .         .         .         .         .         .       g.9678
 tgtcaagtggaatccttccctttccaactctacctccctcactcagctcctttcccctga       c.*660

          .         .         .         .         .         .       g.9738
 tcagagaaagggatcaagggggttgggaggggggaaagagaccagccttggtccctaagc       c.*720

          .         .         .         .         .         .       g.9798
 ctccagaaacgtcttcttaatccccaccttttcttactcccaaaaaagaatgaacacccc       c.*780

          .         .         .         .         .         .       g.9858
 tgactctggagtggtgtatactgccacatcagtgtttgagtcagtccccagaggagaggg       c.*840

          .         .         .         .         .         .       g.9918
 gaaccctcctccatcttttttgcaacatctcatttcttccttttgctgttgcttcccccc       c.*900

          .         .         .         .         .         .       g.9978
 tcacacacttggttttgttctatcctacatttgagatttctattttatgttgaacttgct       c.*960

          .         .         .         .         .         .       g.10038
 gctttttttcatattgaaaagatgacatcgccccaagagccaaaaataaatgggaattga       c.*1020

                                                                    g.10043
 aaaaa                                                              c.*1025

 (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, beta class I 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.