tyrosine kinase 2 (TYK2) - coding DNA reference sequence

(used for mutation description)

(last modified May 1, 2014)

This file was created to facilitate the description of sequence variants in the TYK2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000019.9, covering TYK2 transcript NM_003331.4.

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

 (upstream sequence)
          .         .         .         .         .         .       g.60
 CTCACAGGGACATTTGTCGGGCCGTGGCAGCCTCTCCCCTCGTTCCAGCAACTCAGTGAG       c.60
 L  T  G  T  F  V  G  P  W  Q  P  L  P  S  F  Q  Q  L  S  E         p.20

          .         .         .         .         .  | 02      .    g.1391
 TCTCAGAACTGTCATCTGACCCTGAGCAATGCCTATGAGCTCAAGGAATTT | CGTGGGGGG    c.120
 S  Q  N  C  H  L  T  L  S  N  A  Y  E  L  K  E  F   | R  G  G      p.40

          .         .         .         .         .         .       g.1451
 GCTCTGGCTGGAGTCACAGTGCGTCAGCAGCTCATACAGGGTCACCCCGAAGGACCAGAC       c.180
 A  L  A  G  V  T  V  R  Q  Q  L  I  Q  G  H  P  E  G  P  D         p.60

                                                                g.1457
 ATCTGA |                                                          c.187
 I  X                                                            p.61

          .         .         .         .    | 03    .         .    g.1891
 cgcatagtagaacttatactccttcaggcactctggggcatac | cagaacacggggctgtc    c.*60

          .         .         .         .         .         .       g.1951
 cccatcctcgcgcacgcggtagtactcgtggccttcgggcacggccttggctaggccaaa       c.*120

          .         .         .         .         .         .       g.2011
 gtccccgatcttgaccagcctgtcgttgtccagcagcacgttgcgcgcggctaggtctcg       c.*180

          .         .         .       | 04 .         .         .    g.2500
 gtggatgtagtgctgcgcgtgcagataggccatgcc | ctcgcagatctgctgggcgaagag    c.*240

          .         .         .         .         .         .       g.2560
 cagcagctgggccagcccgatgctgtgccggggcaggtagtctcggaggctgcccagggg       c.*300

          .         .         .      | 05  .         .         .    g.3015
 cacgtactccatgaccagctgcagcgacttctcgc | cttggtcctcgcagcagcccttgta    c.*360

          .         .         .         .         .         .       g.3075
 cttgatgatgtgctcgtggtagagcgtgcgcagaatgtcaatctcctgcttccagcccga       c.*420

          .         .         .         .         .         .       g.3135
 gcggtgctgggggccgcagtctgccttgagggctttcaccgccaccatctcgccagtgcc       c.*480

          .         .         .         .         | 06         .    g.3472
 gtcgttggtcggatcgtagcagtacaagctgaccttgccgaagtgacc | ctcgcccagatc    c.*540

          .         .         .         .         .         .       g.3532
 tcggatctttttcaaatagcgcttgtggaaaaccgtagggtccgacgccggtgagtccgg       c.*600

          .         .       | 07 .         .         .         .    g.5550
 gttcacagtcaagacgtcagcaagat | tgtggggctgcagccgggtgaggtcacgcaggat    c.*660

          .         .         .         .         .         .       g.5610
 ggtgcggaatgatggcctctgggttggctcataggtcagacactggctggtgagtgtggc       c.*720

          .         .         .         .         .        | 08.    g.6715
 cagctgtgggcaggagggctcgggcagccggtgctgcctctggtagaaatgctcctt | ctc    c.*780

          .         .         .         .         .         .       g.6775
 ggagggactgcggctctgcagaggggcctctccgtcaaagcagatctccaggagggtggc       c.*840

          .         .         .         .         .         .       g.6835
 gccaaacccccacttgtccatggcggtgcttaggctgttggccccacctggtaggcattc       c.*900

          .         .         .   | 09     .         .         .    g.6979
 gggggccagccaggggatcctctccacccgct | cctccctggagagggcgcccaggcccac    c.*960

          .         .         .         .         .         .       g.7039
 gccaggatcactcagcttgatgaaggggctggtgccctctgccaaccccagccgggccag       c.*1020

          .         .         .         .         | 10         .    g.8135
 caggatgttccggccacacacattaccatgaaccaggttcttgttctc | caggtagctgag    c.*1080

          .         .         .         .         .         .       g.8195
 ggcgctggccagctgctgggccaccaccatcttccaagccatgggcacatggccccgctc       c.*1140

          .         .         .         .         .       | 11 .    g.10463
 cctccgcagccacacatccaggggtccgtgctccacgtactctgtcaccatgatat | tttc    c.*1200

          .         .         .         .         .         .       g.10523
 agggccgcgcacacagacgccatgcacgaaggccaggtgcgtgtgggagacctggctcat       c.*1260

          .         .     | 12   .         .         .         .    g.10754
 gaggctggctgtctcgtagaaggc | cagggcgatgtcatggtgactagggtccagcacttt    c.*1320

          .         .         .         .         .         .       g.10814
 gagcaccactcgtagctcctgcccacggtccctgccaggcacgagggggtcctcgtcatc       c.*1380

          .         .         .         .         .         .       g.10874
 catcttgccctcctcagggtccccgctgccctccactcgcaggcggccctcatacacgtt       c.*1440

          .         .         . | 13       .         .         .    g.11056
 ggtccttgtgccctggcccaagtgggacag | ctgggtgatctccttctggtcaacccggtg    c.*1500

          .         .         .         .         .         .       g.11116
 gaagctgagctggctgaggttgagtgtcctggggctggcccgagccccccgcatgatgat       c.*1560

          .     | 14   .         .         .         .         .    g.11258
 gagattggaggttt | ctcctggttggggcaggcaacagcgacgcagagagaagcagtcatc    c.*1620

          .         .         .         .         .         .       g.11318
 cccggccctcagcaagcagccctgcaaggcagccccaagttcccgaacgctggggaagga       c.*1680

          .         .         .         .         .         .       g.11378
 ccggccccagccctccagcacgaaggccccgtcctgctgctcaatggggaactttcggag       c.*1740

          .         .        | 15.         .         .         .    g.11530
 ccgcaagctctgcatgccgtctggtgc | ctggctacgctgggccactgtgaggatcaggcg    c.*1800

          .         .         .         .         .         .       g.11590
 gtaggggtggctggtgctccagtgaatgaggtacaggccgtcctcgggccgcagcttggc       c.*1860

          .       | 16 .         .         .         .         .    g.13606
 ctgcacaaatggctcc | agcaggggtccgtggatcccatcccggatgctcatcaccagccg    c.*1920

          .         .         .         .         .         .       g.13666
 tgggggagccacctcgtggcacaggtagtggctggagtcggccgtcaggcggaaatagcc       c.*1980

          .         .         .         .         .     | 17   .    g.13805
 gtccaccagcgacacgaaggacagcgccgcagcccgggaaggcaagctcagctc | caggca    c.*2040

          .         .         .         .         .         .       g.13865
 cttgttgtcctgccggtggatgctgacacagtgctctttcagcaccacgtgggtgatgtc       c.*2100

          .         .         .         .         .         .       g.13925
 ccggaagtcacagaagtaggcccacagtggctcccgcggcctgtctgccggctggccgac       c.*2160

          .         .         .         .         .         .       g.13985
 tgccttgtgagccttggccttcttcccaaacaggctggcttgggggttcctgccactgct       c.*2220

          .   | 18     .         .         .         .         .    g.14513
 gccactagaacc | ctcctccttgttcacctcctcctctactggccaccactggatgccacc    c.*2280

          .         .         .         .         .         .       g.14573
 agtgcctgtcaccagcacctcgtgggttgggggcccagcagcagactcagggccagggtc       c.*2340

          .         .         .         .         .         .       g.14633
 tgtaggggccaccccactgtcccggatgtagcagggctccccctcggcctgggccagcag       c.*2400

          .         .         .         .         .         .       g.14693
 cctcaggtggcacacgggcacacgctctgtgccgaagcggggtgccagccgctcgagtgt       c.*2460

          .         .         .         .         .         .       g.14753
 ggctaggtatttgaccatgaccatctgctgggagagtcggcccggctggaagtcccgcag       c.*2520

          .         .         .         .         .         .       g.14813
 gaacctgcggaagacgttccgaaggcgcagccgggtcagggcgctgtgctgccggatatg       c.*2580

          .         .         .     | 19   .         .         .    g.15391
 ccggcggaaggagcgcgggatgcagtccttgaag | ctggtcttcttggccacctcctccag    c.*2640

          .         .         .         .         .         .       g.15451
 ggggatgccatggcggagagcgaggtgacagaggtgcagaaaggccatgcccaggctctc       c.*2700

          .         .         .         .         .         .       g.15511
 attcttaaagtggtggatctcctcctcggtcgacagctcccacagtgatgccacgtcatt       c.*2760

          .         | 20         .         .         .         .    g.17045
 cacaaactcatgcttgcc | ctgctcaaagaggtactcaaatgaggctgggtccaggagttg    c.*2820

          .         .         .         .         .         .       g.17105
 catcccctgtgctgtctgatctgaggatgcctcggttcctgggggcccacaacggtacac       c.*2880

          .         .         .         .       | 21 .         .    g.17257
 agccggttcccgaggattcatgccatgccagttccggaaataaaac | cttatgcggaaata    c.*2940

          .         .         .         .         .         .       g.17317
 tagcatcaggcttgcatctctggggatctctaggatgtggtttgggggcaaccagacttg       c.*3000

          .         .         .         .         . | 22       .    g.27172
 ggcctgagcatcgaagagggcaaagagattgaagcaaggaggagtgatac | caactttatg    c.*3060

          .         .         .         .         .         .       g.27232
 tgcaatgtggatgcagacttcctcagctgtcagcgatgactcactgaaagtgacccaggg       c.*3120

          .         .         .         .         .         .       g.27292
 ctccccgccgcctggaccagcccagtgcagaagcaccttcaggcctcccatggcagccat       c.*3180

          .         .         .         .         .         .       g.27352
 gggctgggctccatccccaacgggcttactgcccctggccatcccccagtggcgcagagg       c.*3240

          .         .    | 23    .         .         .         .    g.28600
 catgctcccggcaggtggctcag | ctgagggtgagtcctggagctccctgtgtcaactcaa    c.*3300

          .         .         .         .         .         .       g.28660
 gcaagccacttagcaattctgggcctcagtttccccatctggaaaagggaggtcctcagg       c.*3360

          .         .         .         .         .         .       g.28720
 gtgttgccatcaaaagatggttgtaatgtttcaatatagttccgcatattacacattcag       c.*3420

          | 24         .         .         .         .         .    g.29380
 cacagacc | cgggcatcggagcagtcccgaggcaccaggtgctcccatccaagtgcagcct    c.*3480

          .         .         .         .         .         .       g.29440
 gtcaagcgcagccagtccccgcggcttcttcctgaggacctccggccgcgctccttccgc       c.*3540

          .         .         .         .         .         .       g.29500
 gcccgcgtccagactcacccttccgggggaacacaagctcgaacccggacccctccccgc       c.*3600

          .         .  | 25      .         .         .         .                                          g.29560
 tcccgcgggtagctactgctt | g                                          c.*3622

 (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 kinase 2 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.