tyrosine hydroxylase (TH) - coding DNA reference sequence

(used for variant description)

(last modified June 20, 2022)

This file was created to facilitate the description of sequence variants on transcript NM_000360.3 in the TH gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000011.9, covering TH transcript NM_000360.3.

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

 (upstream sequence)
                                                   .                g.5019
                                          cggacctccacactgagcc       c.-1

          .         .         .         .         .         .       g.5079
 ATGCCCACCCCCGACGCCACCACGCCACAGGCCAAGGGCTTCCGCAGGGCCGTGTCTGAG       c.60
 M  P  T  P  D  A  T  T  P  Q  A  K  G  F  R  R  A  V  S  E         p.20

          .         .         . | 02       .         .         .    g.6964
 CTGGACGCCAAGCAGGCAGAGGCCATCATG | TCCCCGCGGTTCATTGGGCGCAGGCAGAGC    c.120
 L  D  A  K  Q  A  E  A  I  M   | S  P  R  F  I  G  R  R  Q  S      p.40

          .         .         .         .         .         .       g.7024
 CTCATCGAGGACGCCCGCAAGGAGCGGGAGGCGGCGGTGGCAGCAGCGGCCGCTGCAGTC       c.180
 L  I  E  D  A  R  K  E  R  E  A  A  V  A  A  A  A  A  A  V         p.60

          .         .         .         .         .         .       g.7084
 CCCTCGGAGCCCGGGGACCCCCTGGAGGCTGTGGCCTTTGAGGAGAAGGAGGGGAAGGCC       c.240
 P  S  E  P  G  D  P  L  E  A  V  A  F  E  E  K  E  G  K  A         p.80

          .         .         .         .         .         .       g.7144
 GTGCTAAACCTGCTCTTCTCCCCGAGGGCCACCAAGCCCTCGGCGCTGTCCCGAGCTGTG       c.300
 V  L  N  L  L  F  S  P  R  A  T  K  P  S  A  L  S  R  A  V         p.100

          .   | 03     .         .         .         .         .    g.8188
 AAGGTGTTTGAG | ACGTTTGAAGCCAAAATCCACCATCTAGAGACCCGGCCCGCCCAGAGG    c.360
 K  V  F  E   | T  F  E  A  K  I  H  H  L  E  T  R  P  A  Q  R      p.120

          .         .         .         .         .         .       g.8248
 CCGCGAGCTGGGGGCCCCCACCTGGAGTACTTCGTGCGCCTCGAGGTGCGCCGAGGGGAC       c.420
 P  R  A  G  G  P  H  L  E  Y  F  V  R  L  E  V  R  R  G  D         p.140

          .         .         .         .         .         .       g.8308
 CTGGCCGCCCTGCTCAGTGGTGTGCGCCAGGTGTCAGAGGACGTGCGCAGCCCCGCGGGG       c.480
 L  A  A  L  L  S  G  V  R  Q  V  S  E  D  V  R  S  P  A  G         p.160

         | 04.         .         .         .         .         .    g.8679
 CCCAAGG | TCCCCTGGTTCCCAAGAAAAGTGTCAGAGCTGGACAAGTGTCATCACCTGGTC    c.540
 P  K  V |   P  W  F  P  R  K  V  S  E  L  D  K  C  H  H  L  V      p.180

          .         .         .       | 05 .         .         .    g.8896
 ACCAAGTTCGACCCTGACCTGGACTTGGACCACCCG | GGCTTCTCGGACCAGGTGTACCGC    c.600
 T  K  F  D  P  D  L  D  L  D  H  P   | G  F  S  D  Q  V  Y  R      p.200

          .         .         .         .     | 06   .         .    g.9336
 CAGCGCAGGAAGCTGATTGCTGAGATCGCCTTCCAGTACAGGCA | CGGCGACCCGATTCCC    c.660
 Q  R  R  K  L  I  A  E  I  A  F  Q  Y  R  H  |  G  D  P  I  P      p.220

          .         .         .      | 07  .         .         .    g.9798
 CGTGTGGAGTACACCGCCGAGGAGATTGCCACCTG | GAAGGAGGTCTACACCACGCTGAAG    c.720
 R  V  E  Y  T  A  E  E  I  A  T  W  |  K  E  V  Y  T  T  L  K      p.240

          .         .         .         .         .         .       g.9858
 GGCCTCTACGCCACGCACGCCTGCGGGGAGCACCTGGAGGCCTTTGCTTTGCTGGAGCGC       c.780
 G  L  Y  A  T  H  A  C  G  E  H  L  E  A  F  A  L  L  E  R         p.260

          .         .         .         .         .         .       g.9918
 TTCAGCGGCTACCGGGAAGACAATATCCCCCAGCTGGAGGACGTCTCCCGCTTCCTGAAG       c.840
 F  S  G  Y  R  E  D  N  I  P  Q  L  E  D  V  S  R  F  L  K         p.280

   | 08      .         .         .         .         .         .    g.10096
 G | AGCGCACGGGCTTCCAGCTGCGGCCTGTGGCCGGCCTGCTGTCCGCCCGGGACTTCCTG    c.900
 E |   R  T  G  F  Q  L  R  P  V  A  G  L  L  S  A  R  D  F  L      p.300

          .         .         .         .         .         .       g.10156
 GCCAGCCTGGCCTTCCGCGTGTTCCAGTGCACCCAGTATATCCGCCACGCGTCCTCGCCC       c.960
 A  S  L  A  F  R  V  F  Q  C  T  Q  Y  I  R  H  A  S  S  P         p.320

          .        | 09.         .         .         .         .    g.10299
 ATGCACTCCCCTGAGCC | GGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC    c.1020
 M  H  S  P  E  P  |  D  C  C  H  E  L  L  G  H  V  P  M  L  A      p.340

          .         .        | 10.         .         .         .    g.10780
 GACCGCACCTTCGCGCAGTTCTCGCAG | GACATTGGCCTGGCGTCCCTGGGGGCCTCGGAT    c.1080
 D  R  T  F  A  Q  F  S  Q   | D  I  G  L  A  S  L  G  A  S  D      p.360

          .         .     | 11   .         .         .         .    g.11078
 GAGGAAATTGAGAAGCTGTCCACG | CTGTACTGGTTCACGGTGGAGTTCGGGCTGTGTAAG    c.1140
 E  E  I  E  K  L  S  T   | L  Y  W  F  T  V  E  F  G  L  C  K      p.380

          .         .         .         .         .         .       g.11138
 CAGAACGGGGAGGTGAAGGCCTATGGTGCCGGGCTGCTGTCCTCCTACGGGGAGCTCCTG       c.1200
 Q  N  G  E  V  K  A  Y  G  A  G  L  L  S  S  Y  G  E  L  L         p.400

  | 12       .         .         .         .         .         .    g.11500
  | CACTGCCTGTCTGAGGAGCCTGAGATTCGGGCCTTCGACCCTGAGGCTGCGGCCGTGCAG    c.1260
  | H  C  L  S  E  E  P  E  I  R  A  F  D  P  E  A  A  A  V  Q      p.420

          .         .         .         .         .         .       g.11560
 CCCTACCAAGACCAGACGTACCAGTCAGTCTACTTCGTGTCTGAGAGCTTCAGTGACGCC       c.1320
 P  Y  Q  D  Q  T  Y  Q  S  V  Y  F  V  S  E  S  F  S  D  A         p.440

          .     | 13   .         .         .         .         .    g.12459
 AAGGACAAGCTCAG | GAGCTATGCCTCACGCATCCAGCGCCCCTTCTCCGTGAAGTTCGAC    c.1380
 K  D  K  L  R  |  S  Y  A  S  R  I  Q  R  P  F  S  V  K  F  D      p.460

          .         .         .         .         .         .       g.12519
 CCGTACACGCTGGCCATCGACGTGCTGGACAGCCCCCAGGCCGTGCGGCGCTCCCTGGAG       c.1440
 P  Y  T  L  A  I  D  V  L  D  S  P  Q  A  V  R  R  S  L  E         p.480

          .         .         .         .         .                 g.12573
 GGTGTCCAGGATGAGCTGGACACCCTTGCCCATGCGCTGAGTGCCATTGGCTAG             c.1494
 G  V  Q  D  E  L  D  T  L  A  H  A  L  S  A  I  G  X               p.497

          .         .         .         .         .         .       g.12633
 gtgcacggcgtccctgagggcccttcccaacctcccctggtcctgcactgtcccggagct       c.*60

          .         .         .         .         .         .       g.12693
 caggccctggtgaggggctgggtcccgggtgccccccatgccctccctgctgccaggctc       c.*120

          .         .         .         .         .         .       g.12753
 ccactgcccctgcacctgcttctcagcgcaacagctgtgtgtgcccgtggtgaggttgtg       c.*180

          .         .         .         .         .         .       g.12813
 ctgcctgtggtgaggtcctgtcctggctcccagggtcctgggggctgctgcactgccctc       c.*240

          .         .         .         .         .         .       g.12873
 cgcccttccctgacactgtctgctgccccaatcaccgtcacaataaaagaaactgtggtc       c.*300

                                                                    g.12877
 tcta                                                               c.*304

 (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 Tyrosine hydroxylase 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.