T-box 20 (TBX20) - coding DNA reference sequence

(used for variant description)

(last modified June 18, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_001077653.2 in the TBX20 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_015805.1, covering TBX20 transcript NM_001077653.2.

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

 (upstream sequence)
 .         .         .         .         .         .                g.5060
 gctcactgtccgtagttccgcgccgcgctccccacgccagcgtcctagcagccgcgctcg       c.-421

 .         .         .         .         .         .                g.5120
 gctggtggccacctcagcctgggacatcccggctgtccccagccccagagggaggaagga       c.-361

 .         .         .         .         .         .                g.5180
 cgcggaggggatgctccaggaccccaggactttgtgcagttgatgctcgtttccgccttc       c.-301

 .         .         .         .         .         .                g.5240
 gggctgtgcagactgtcgtcctgccgagcgccccggggcgtgcgcacccgccgtagtgct       c.-241

 .         .         .         .         .         .                g.5300
 cggtgggccctctcctctccggctgccttcgaagtctctgcggctctggggctttgcggt       c.-181

 .         .         .         .         .         .                g.5360
 ggggaatagaggccagtgtgcagctctggagtcgttggagctgacacttctggagtccct       c.-121

 .         .         .         .         .         .                g.5420
 ggccccgctgtgactgctctcggaaactttgagctgtgtttcgggtctttgtctcccttg       c.-61

 .         .         .         .         .         .                g.5480
 gggaatctggacggcagttcggacgaccccgtccctggccaggaccgcgtgctggggacc       c.-1

          .         .         .         .         .         .       g.5540
 ATGGAGTTCACGGCGTCCCCCAAGCCCCAACTCTCCTCTCGGGCCAACGCCTTCTCCATT       c.60
 M  E  F  T  A  S  P  K  P  Q  L  S  S  R  A  N  A  F  S  I         p.20

          .         .         .         .         .         .       g.5600
 GCCGCGCTCATGTCGAGCGGCGGCTCTAAGGAGAAGGAGGCGACGGAGAACACAATCAAA       c.120
 A  A  L  M  S  S  G  G  S  K  E  K  E  A  T  E  N  T  I  K         p.40

         | 02.         .         .         .         .         .    g.8949
 CCCCTGG | AGCAATTTGTGGAGAAGTCGTCCTGTGCCCAGCCCCTGGGTGAGCTGACCAGC    c.180
 P  L  E |   Q  F  V  E  K  S  S  C  A  Q  P  L  G  E  L  T  S      p.60

          .         .         .         .         .         .       g.9009
 CTGGATGCTCATGGGGAGTTTGGTGGAGGCAGTGGCAGCAGCCCGTCCTCCTCCTCTCTG       c.240
 L  D  A  H  G  E  F  G  G  G  S  G  S  S  P  S  S  S  S  L         p.80

          .         .         .         .         .         .       g.9069
 TGCACTGAGCCACTGATCCCCACCACCCCCATCATCCCCAGTGAGGAAATGGCCAAAATT       c.300
 C  T  E  P  L  I  P  T  T  P  I  I  P  S  E  E  M  A  K  I         p.100

          .         .         .         .         .         .       g.9129
 GCCTGCAGCCTGGAGACCAAGGAGCTTTGGGACAAATTCCATGAGCTGGGCACCGAGATG       c.360
 A  C  S  L  E  T  K  E  L  W  D  K  F  H  E  L  G  T  E  M         p.120

          .         . | 03       .         .         .         .    g.10298
 ATCATCACCAAGTCGGGCAG | GAGGATGTTTCCAACCATCCGGGTGTCCTTTTCGGGGGTG    c.420
 I  I  T  K  S  G  R  |  R  M  F  P  T  I  R  V  S  F  S  G  V      p.140

          .         .         .         .         .         .       g.10358
 GATCCTGAGGCCAAGTACATAGTCCTGATGGACATCGTCCCTGTGGACAACAAGAGGTAC       c.480
 D  P  E  A  K  Y  I  V  L  M  D  I  V  P  V  D  N  K  R  Y         p.160

          .         .         .         .         .         .       g.10418
 CGCTACGCCTACCACCGGTCCTCCTGGCTGGTGGCTGGCAAGGCCGACCCGCCGTTGCCA       c.540
 R  Y  A  Y  H  R  S  S  W  L  V  A  G  K  A  D  P  P  L  P         p.180

       | 04  .         .         .         .         .         .    g.14097
 GCCAG | GCTCTATGTGCATCCAGATTCTCCTTTTACCGGTGAGCAACTACTCAAACAGATG    c.600
 A  R  |  L  Y  V  H  P  D  S  P  F  T  G  E  Q  L  L  K  Q  M      p.200

          .         .         .         .         .     | 05   .    g.18068
 GTGTCTTTTGAAAAGGTGAAACTCACCAACAATGAACTGGATCAACATGGCCAT | ATAATT    c.660
 V  S  F  E  K  V  K  L  T  N  N  E  L  D  Q  H  G  H   | I  I      p.220

          .         .         .         .         .         .       g.18128
 TTGAACTCAATGCATAAGTACCAGCCAAGGGTGCACATCATTAAGAAGAAAGACCACACA       c.720
 L  N  S  M  H  K  Y  Q  P  R  V  H  I  I  K  K  K  D  H  T         p.240

          .         .         .         .         .         .       g.18188
 GCCTCATTGCTCAACCTGAAGTCTGAAGAATTTAGAACTTTCATCTTTCCAGAAACAGTT       c.780
 A  S  L  L  N  L  K  S  E  E  F  R  T  F  I  F  P  E  T  V         p.260

          .         .         .    | 06    .         .         .    g.27546
 TTTACGGCAGTCACTGCCTACCAGAATCAACTG | ATAACGAAGCTGAAAATAGATAGCAAT    c.840
 F  T  A  V  T  A  Y  Q  N  Q  L   | I  T  K  L  K  I  D  S  N      p.280

          .         .         .         .         . | 07       .    g.54527
 CCTTTTGCCAAAGGATTCCGGGATTCCTCCAGGCTCACTGACATTGAGAG | GGAAAGTGTG    c.900
 P  F  A  K  G  F  R  D  S  S  R  L  T  D  I  E  R  |  E  S  V      p.300

          .         .         .         .         .         .       g.54587
 GAGAGCCTGATTCAAAAGCATTCCTATGCACGCTCACCCATCCGTACCTACGGAGGAGAA       c.960
 E  S  L  I  Q  K  H  S  Y  A  R  S  P  I  R  T  Y  G  G  E         p.320

          .         .         .         .    | 08    .         .    g.56346
 GAAGATGTCTTGGGGGATGAGAGTCAGACAACCCCAAATCGAG | GGTCAGCCTTTACAACA    c.1020
 E  D  V  L  G  D  E  S  Q  T  T  P  N  R  G |   S  A  F  T  T      p.340

          .         .         .         .         .         .       g.56406
 TCTGATAATTTGTCTCTCAGCTCCTGGGTATCATCTTCTTCCAGTTTTCCTGGGTTTCAG       c.1080
 S  D  N  L  S  L  S  S  W  V  S  S  S  S  S  F  P  G  F  Q         p.360

          .         .         .         .         .         .       g.56466
 CACCCACAGTCCCTGACTGCTCTTGGCACCAGCACAGCATCCATAGCAACACCCATTCCT       c.1140
 H  P  Q  S  L  T  A  L  G  T  S  T  A  S  I  A  T  P  I  P         p.380

          .         .         .         .         .         .       g.56526
 CACCCCATCCAGGGTTCTCTGCCACCATATAGCCGACTGGGAATGCCTCTGACACCATCG       c.1200
 H  P  I  Q  G  S  L  P  P  Y  S  R  L  G  M  P  L  T  P  S         p.400

          .         .         .         .         .         .       g.56586
 GCCATTGCCAGCTCCATGCAAGGGAGTGGCCCCACATTCCCTTCATTCCACATGCCGCGA       c.1260
 A  I  A  S  S  M  Q  G  S  G  P  T  F  P  S  F  H  M  P  R         p.420

          .         .         .         .         .         .       g.56646
 TACCATCACTATTTTCAGCAGGGGCCCTATGCTGCCATTCAAGGACTACGCCATTCCTCT       c.1320
 Y  H  H  Y  F  Q  Q  G  P  Y  A  A  I  Q  G  L  R  H  S  S         p.440

          .         .                                               g.56670
 GCTGTGATGACGCCATTTGTATGA                                           c.1344
 A  V  M  T  P  F  V  X                                             p.447

 

 (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 20 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.