T-box 6 (TBX6) - coding DNA reference sequence

(used for variant description)

(last modified November 24, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_004608.3 in the TBX6 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_023283.1, covering TBX6 transcript NM_004608.3.

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

 (upstream sequence)
 .         .  | 02      .         .         .         .             g.5691
 agctgtcggact | caccgggggccctaagcagcgagacctgaggccagacggaactacaac    c.-1

          .         .         .         .         .         .       g.5751
 ATGTACCATCCACGAGAATTGTACCCGTCCCTGGGGGCCGGCTACCGCCTGGGGCCCGCC       c.60
 M  Y  H  P  R  E  L  Y  P  S  L  G  A  G  Y  R  L  G  P  A         p.20

          .         .         .         .         .         | 03    g.5894
 CAACCTGGGGCCGACTCCAGCTTCCCACCCGCCCTAGCGGAGGGCTACCGCTACCCCG | AA    c.120
 Q  P  G  A  D  S  S  F  P  P  A  L  A  E  G  Y  R  Y  P  E |       p.40

          .         .         .         .         .         .       g.5954
 CTGGACACCCCTAAACTGGATTGCTTCCTCTCCGGGATGGAGGCTGCTCCCCGCACCCTG       c.180
 L  D  T  P  K  L  D  C  F  L  S  G  M  E  A  A  P  R  T  L         p.60

          .         .         .         .         .         .       g.6014
 GCCGCGCACCCACCTCTGCCCCTTCTGCCCCCTGCCATGGGCACTGAGCCGGCCCCATCA       c.240
 A  A  H  P  P  L  P  L  L  P  P  A  M  G  T  E  P  A  P  S         p.80

          .         .         .         .         .         .       g.6074
 GCTCCAGAGGCCCTCCATTCCCTCCCGGGGGTCAGCCTGAGCCTGGAGAACCGGGAGCTA       c.300
 A  P  E  A  L  H  S  L  P  G  V  S  L  S  L  E  N  R  E  L         p.100

          .         .         .         .         .    | 04    .    g.7681
 TGGAAGGAGTTCAGCTCTGTGGGAACAGAAATGATCATCACCAAAGCTGGGAG | GCGCATG    c.360
 W  K  E  F  S  S  V  G  T  E  M  I  I  T  K  A  G  R  |  R  M      p.120

          .         .         .         .         .         .       g.7741
 TTCCCTGCCTGCCGAGTGTCAGTCACTGGCCTGGACCCCGAGGCCCGCTACTTGTTTCTT       c.420
 F  P  A  C  R  V  S  V  T  G  L  D  P  E  A  R  Y  L  F  L         p.140

          .         .         .         .         .         .       g.7801
 CTGGATGTGATTCCGGTGGATGGGGCTCGCTACCGCTGGCAGGGCCGGCGCTGGGAGCCC       c.480
 L  D  V  I  P  V  D  G  A  R  Y  R  W  Q  G  R  R  W  E  P         p.160

          .         .         .         .         .         .       g.7861
 AGCGGCAAGGCAGAGCCCCGCCTGCCTGACCGTGTCTACATTCACCCCGACTCTCCTGCC       c.540
 S  G  K  A  E  P  R  L  P  D  R  V  Y  I  H  P  D  S  P  A         p.180

          .         .         .         .         .         .       g.7921
 ACTGGTGCACATTGGATGCGGCAGCCTGTGTCTTTCCATCGTGTCAAGCTCACCAACAGC       c.600
 T  G  A  H  W  M  R  Q  P  V  S  F  H  R  V  K  L  T  N  S         p.200

          .         .  | 05      .         .         .         .    g.8084
 ACGCTGGACCCCCACGGCCAC | CTGATCCTGCACTCCATGCACAAGTACCAACCCCGCATA    c.660
 T  L  D  P  H  G  H   | L  I  L  H  S  M  H  K  Y  Q  P  R  I      p.220

          .         .         .         .         .         .       g.8144
 CACCTAGTTCGGGCAGCCCAGCTCTGCAGCCAGCACTGGGGGGGCATGGCCTCCTTCCGC       c.720
 H  L  V  R  A  A  Q  L  C  S  Q  H  W  G  G  M  A  S  F  R         p.240

          .         .         .         .         | 06         .    g.8281
 TTCCCCGAGACCACATTCATCTCCGTGACAGCCTACCAGAACCCACAG | ATCACACAACTG    c.780
 F  P  E  T  T  F  I  S  V  T  A  Y  Q  N  P  Q   | I  T  Q  L      p.260

          .         .         .         .         .          | 07    g.10034
 AAGATTGCAGCCAATCCCTTTGCCAAAGGCTTCCGGGAGAACGGCAGAAACTGTAAGAG | G    c.840
 K  I  A  A  N  P  F  A  K  G  F  R  E  N  G  R  N  C  K  R  |      p.280

          .         .         .         .         .         .       g.10094
 GAGCGAGACGCCCGTGTGAAGAGGAAACTGCGGGGCCCAGAGCCAGCAGCCACAGAGGCC       c.900
 E  R  D  A  R  V  K  R  K  L  R  G  P  E  P  A  A  T  E  A         p.300

          .    | 08    .         .         .         .         .    g.10236
 TATGGGAGCGGAG | ACACACCAGGTGGTCCCTGCGACTCCACCCTGGGTGGAGACATTCGT    c.960
 Y  G  S  G  D |   T  P  G  G  P  C  D  S  T  L  G  G  D  I  R      p.320

          .         .         .         .         .         .       g.10296
 GAATCAGATCCAGAACAGGCCCCAGCCCCCGGGGAAGCCACCGCTGCCCCGGCACCTCTG       c.1020
 E  S  D  P  E  Q  A  P  A  P  G  E  A  T  A  A  P  A  P  L         p.340

          .         .         .         .         .         .       g.10356
 TGTGGTGGCCCCAGTGCTGAGGCCTACCTCCTGCACCCTGCGGCTTTCCATGGGGCCCCC       c.1080
 C  G  G  P  S  A  E  A  Y  L  L  H  P  A  A  F  H  G  A  P         p.360

          .        | 09.         .         .         .         .    g.10489
 AGTCACCTTCCCACCAG | GAGCCCCAGCTTCCCGGAGGCTCCAGACTCCGGGCGCTCAGCC    c.1140
 S  H  L  P  T  R  |  S  P  S  F  P  E  A  P  D  S  G  R  S  A      p.380

          .         .         .         .         .         .       g.10549
 CCCTACTCGGCTGCATTTCTGGAGCTGCCGCACGGGTCAGGGGGCTCCGGGTACCCAGCG       c.1200
 P  Y  S  A  A  F  L  E  L  P  H  G  S  G  G  S  G  Y  P  A         p.400

          .         .         .         .         .         .       g.10609
 GCTCCACCGGCGGTACCCTTTGCCCCGCACTTTCTCCAAGGGGGCCCCTTCCCTCTACCA       c.1260
 A  P  P  A  V  P  F  A  P  H  F  L  Q  G  G  P  F  P  L  P         p.420

          .         .         .         .         .                 g.10660
 TACACCGCGCCTGGGGGCTATCTGGATGTGGGCTCCAAACCCATGTACTGA                c.1311
 Y  T  A  P  G  G  Y  L  D  V  G  S  K  P  M  Y  X                  p.436

          .         .         .         .         .         .       g.10720
 accactgctgggcccctctgcctccatcacaaacctcccgctcccttcccccagccctgg       c.*60

          .         .         .         .         .         .       g.10780
 agccccctcacctccaccggccccatcccccacaccaaatggccgccttgggcctgccca       c.*120

          .         .         .         .         .         .       g.10840
 cccaccccctcaacttcacaccttgatttcactcccacccccctctggcttcaaagccta       c.*180

          .         .         .         .         .         .       g.10900
 accaaggctgctgggagtccagctggggccggcttccccttcccggctctcacctccgtg       c.*240

          .         .         .         .         .         .       g.10960
 tgaatggaaggggctctgcctggccaaatggggccacagaccagcatccccacttaccag       c.*300

          .         .         .         .         .         .       g.11020
 gcctccccatgggctctggaggggctcaatccccacccccccacacacactggtgcaggc       c.*360

          .         .         .         .         .         .       g.11080
 cacaccagtctgttgttctgggaccagagtatttttgttaataaaactcaaaagccatcc       c.*420

          .                                                         g.11092
 atgctcaggaaa                                                       c.*432

 (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 T-box 6 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.