tubulin, beta 3 class III (TUBB3) - coding DNA reference sequence

(used for variant description)

(last modified February 24, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_006086.3 in the TUBB3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_027810.1, covering TUBB3 transcript NM_006086.3.

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

 (upstream sequence)
                                                                    g.6273
                                                          gac       c.-121

 .         .         .         .         .         .                g.6333
 atcagccgatgcgaagggcggggccgcggctataagagcgcgcggccgcggtccccgacc       c.-61

 .         .         .         .         .         .                g.6393
 ctcagcagccagcccggcccgcccgcgcccgtccgcagccgcccgccagacgcgcccagt       c.-1

          .         .         .         .         .        | 02.    g.15565
 ATGAGGGAGATCGTGCACATCCAGGCCGGCCAGTGCGGCAACCAGATCGGGGCCAAG | 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.15625
 TGGGAAGTCATCAGTGATGAGCATGGCATCGACCCCAGCGGCAACTACGTGGGCGACTCG       c.120
 W  E  V  I  S  D  E  H  G  I  D  P  S  G  N  Y  V  G  D  S         p.40

          .         .         .         .       | 03 .         .    g.16473
 GACTTGCAGCTGGAGCGGATCAGCGTCTACTACAACGAGGCCTCTT | CTCACAAGTACGTG    c.180
 D  L  Q  L  E  R  I  S  V  Y  Y  N  E  A  S  S |   H  K  Y  V      p.60

          .         .         .         .         .         .       g.16533
 CCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCC       c.240
 P  R  A  I  L  V  D  L  E  P  G  T  M  D  S  V  R  S  G  A         p.80

          .         .         .        | 04.         .         .    g.17743
 TTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTG | GTCAGAGTGGGGCCGGCAACAAC    c.300
 F  G  H  L  F  R  P  D  N  F  I  F  G |   Q  S  G  A  G  N  N      p.100

          .         .         .         .         .         .       g.17803
 TGGGCCAAGGGTCACTACACGGAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTG       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.17863
 CGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGG       c.420
 R  K  E  C  E  N  C  D  C  L  Q  G  F  Q  L  T  H  S  L  G         p.140

          .         .         .         .         .         .       g.17923
 GGCGGCACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCC       c.480
 G  G  T  G  S  G  M  G  T  L  L  I  S  K  V  R  E  E  Y  P         p.160

          .         .         .         .         .         .       g.17983
 GACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTG       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.18043
 GAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTAC       c.600
 E  P  Y  N  A  T  L  S  I  H  Q  L  V  E  N  T  D  E  T  Y         p.200

          .         .         .         .         .         .       g.18103
 TGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCCTCAAGCTGGCCACGCCC       c.660
 C  I  D  N  E  A  L  Y  D  I  C  F  R  T  L  K  L  A  T  P         p.220

          .         .         .         .         .         .       g.18163
 ACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTG       c.720
 T  Y  G  D  L  N  H  L  V  S  A  T  M  S  G  V  T  T  S  L         p.240

          .         .         .         .         .         .       g.18223
 CGCTTCCCGGGCCAGCTCAACGCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTC       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.18283
 CCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAG       c.840
 P  R  L  H  F  F  M  P  G  F  A  P  L  T  A  R  G  S  Q  Q         p.280

          .         .         .         .         .         .       g.18343
 TACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATG       c.900
 Y  R  A  L  T  V  P  E  L  T  Q  Q  M  F  D  A  K  N  M  M         p.300

          .         .         .         .         .         .       g.18403
 GCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTCCGGGGCCGC       c.960
 A  A  C  D  P  R  H  G  R  Y  L  T  V  A  T  V  F  R  G  R         p.320

          .         .         .         .         .         .       g.18463
 ATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTAC       c.1020
 M  S  M  K  E  V  D  E  Q  M  L  A  I  Q  S  K  N  S  S  Y         p.340

          .         .         .         .         .         .       g.18523
 TTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCCGTGTGTGACATCCCGCCCCGCGGC       c.1080
 F  V  E  W  I  P  N  N  V  K  V  A  V  C  D  I  P  P  R  G         p.360

          .         .         .         .         .         .       g.18583
 CTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGC       c.1140
 L  K  M  S  S  T  F  I  G  N  S  T  A  I  Q  E  L  F  K  R         p.380

          .         .         .         .         .         .       g.18643
 ATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGC       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.18703
 GAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCC       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.18763
 GAGTACCAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGAC       c.1320
 E  Y  Q  Q  Y  Q  D  A  T  A  E  E  E  G  E  M  Y  E  D  D         p.440

          .         .         .                                     g.18796
 GAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGA                                  c.1353
 E  E  E  S  E  A  Q  G  P  K  X                                    p.450

          .         .         .         .         .         .       g.18856
 agctgctcgcagctggagtgagaggcaggtggcggccggggccgaagccagcagtgtcta       c.*60

          .         .         .         .         .         .       g.18916
 aacccccggagccatcttgctgccgacaccctgctttcccctcgccctagggctcccttg       c.*120

          .         .         .         .         .         .       g.18976
 ccgccctcctgcagtatttatggcctcgtcctccccacctaggccacgtgtgagctgctc       c.*180

          .         .         .         .         .         .       g.19036
 ctgtctctgtcttattgcagctccaggcctgacgttttacggttttgttttttactggtt       c.*240

          .         .         .         .         .                 g.19089
 tgtgtttatattttcggggatacttaataaatctattgctgtcagataccctt              c.*293

 (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 3 class III 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.