kynureninase (KYNU) - coding DNA reference sequence

(used for variant description)

(last modified January 8, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_003937.2 in the KYNU gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_023254.1, covering KYNU transcript NM_003937.2.

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

 (upstream sequence)
                                                   .                g.5010
                                                   gcagttcttt       c.-121

 .         .         .         .         .         .                g.5070
 gaatttctcaccctaagatctggcctgtacattttcaaggaattcttgagaggttcttgg       c.-61

 .         .         .         .         . | 02       .             g.12742
 agagattctgggagccaaacactccattgggatcctagctg | ttttagagaacaacttgta    c.-1

          .         .         .         .         .         .       g.12802
 ATGGAGCCTTCATCTCTTGAGCTGCCGGCTGACACAGTGCAGCGCATTGCGGCTGAACTC       c.60
 M  E  P  S  S  L  E  L  P  A  D  T  V  Q  R  I  A  A  E  L         p.20

          .         .         .         .         .         .       g.12862
 AAATGCCACCCAACGGATGAGAGGGTGGCTCTCCACCTAGATGAGGAAGATAAGCTGAGG       c.120
 K  C  H  P  T  D  E  R  V  A  L  H  L  D  E  E  D  K  L  R         p.40

          .         .         .         .          | 03        .    g.45994
 CACTTCAGGGAGTGCTTTTATATTCCCAAAATACAGGATCTGCCTCCAG | TTGATTTATCA    c.180
 H  F  R  E  C  F  Y  I  P  K  I  Q  D  L  P  P  V |   D  L  S      p.60

          .         .         .         .         .         .       g.46054
 TTAGTGAATAAAGATGAAAATGCCATCTATTTCTTGGGAAATTCTCTTGGCCTTCAACCA       c.240
 L  V  N  K  D  E  N  A  I  Y  F  L  G  N  S  L  G  L  Q  P         p.80

          .         .         .         .         . | 04       .    g.55043
 AAAATGGTTAAAACATATCTTGAAGAAGAACTAGATAAGTGGGCCAAAAT | AGCAGCCTAT    c.300
 K  M  V  K  T  Y  L  E  E  E  L  D  K  W  A  K  I  |  A  A  Y      p.100

          .         .         .         .         .         .       g.55103
 GGTCATGAAGTGGGGAAGCGTCCTTGGATTACAGGAGATGAGAGTATTGTAGGCCTTATG       c.360
 G  H  E  V  G  K  R  P  W  I  T  G  D  E  S  I  V  G  L  M         p.120

          .    | 05    .         .         .         .         .    g.82231
 AAGGACATTGTAG | GAGCCAATGAGAAAGAAATAGCCCTAATGAATGCTTTGACTGTAAAT    c.420
 K  D  I  V  G |   A  N  E  K  E  I  A  L  M  N  A  L  T  V  N      p.140

          .      | 06  .         .         .         .         .    g.83622
 TTACATCTTCTAATG | TTATCATTTTTTAAGCCTACGCCAAAACGATATAAAATTCTTCTA    c.480
 L  H  L  L  M   | L  S  F  F  K  P  T  P  K  R  Y  K  I  L  L      p.160

          .         .        | 07.         .         .         .    g.85048
 GAAGCCAAAGCCTTCCCTTCTGATCAT | TATGCTATTGAGTCACAACTACAACTTCACGGA    c.540
 E  A  K  A  F  P  S  D  H   | Y  A  I  E  S  Q  L  Q  L  H  G      p.180

          .         .         .         .   | 08     .         .    g.88016
 CTTAACATTGAAGAAAGTATGCGGATGATAAAGCCAAGAGAG | GGGGAAGAAACCTTAAGA    c.600
 L  N  I  E  E  S  M  R  M  I  K  P  R  E   | G  E  E  T  L  R      p.200

          .         .         .         .         .         .       g.88076
 ATAGAGGATATCCTTGAAGTAATTGAGAAGGAAGGAGACTCAATTGCAGTGATCCTGTTC       c.660
 I  E  D  I  L  E  V  I  E  K  E  G  D  S  I  A  V  I  L  F         p.220

          .         .         .         .         .         .       g.88136
 AGTGGGGTGCATTTTTACACTGGACAGCACTTTAATATTCCTGCCATCACAAAAGCTGGA       c.720
 S  G  V  H  F  Y  T  G  Q  H  F  N  I  P  A  I  T  K  A  G         p.240

           | 09        .         .         .         .         .    g.112509
 CAAGCGAAG | GGTTGTTATGTTGGCTTTGATCTAGCACATGCAGTTGGAAATGTTGAACTC    c.780
 Q  A  K   | G  C  Y  V  G  F  D  L  A  H  A  V  G  N  V  E  L      p.260

          .         .         .         .         | 10         .    g.113334
 TACTTACATGACTGGGGAGTTGATTTTGCCTGCTGGTGTTCCTACAAG | TATTTAAATGCA    c.840
 Y  L  H  D  W  G  V  D  F  A  C  W  C  S  Y  K   | Y  L  N  A      p.280

          .         .         .         .         .         .       g.113394
 GGAGCAGGAGGAATTGCTGGTGCCTTCATTCATGAAAAGCATGCCCATACGATTAAACCT       c.900
 G  A  G  G  I  A  G  A  F  I  H  E  K  H  A  H  T  I  K  P         p.300

    | 11     .         .         .         .         .      | 12  . g.160615
 GC | ATTAGTGGGATGGTTTGGCCATGAACTCAGCACCAGATTTAAGATGGATAACA | AACTG c.960
 A  |  L  V  G  W  F  G  H  E  L  S  T  R  F  K  M  D  N  K |   L   p.320

          .         .         .         .         .         .       g.160675
 CAGTTAATCCCTGGGGTCTGTGGATTCCGAATTTCAAATCCTCCCATTTTGTTGGTCTGT       c.1020
 Q  L  I  P  G  V  C  G  F  R  I  S  N  P  P  I  L  L  V  C         p.340

          .         .  | 13      .         .         .         .    g.167841
 TCCTTGCATGCTAGTTTAGAG | ATCTTTAAGCAAGCGACAATGAAGGCATTGCGGAAAAAA    c.1080
 S  L  H  A  S  L  E   | I  F  K  Q  A  T  M  K  A  L  R  K  K      p.360

          .         .         .         .         .         .       g.167901
 TCTGTTTTGCTAACTGGCTATCTGGAATACCTGATCAAGCATAACTATGGCAAAGATAAA       c.1140
 S  V  L  L  T  G  Y  L  E  Y  L  I  K  H  N  Y  G  K  D  K         p.380

          .         .         .         .         .         .       g.167961
 GCAGCAACCAAGAAACCAGTTGTGAACATAATTACTCCGTCTCATGTAGAGGAGCGGGGG       c.1200
 A  A  T  K  K  P  V  V  N  I  I  T  P  S  H  V  E  E  R  G         p.400

          .         .         .         .         .         .       g.168021
 TGCCAGCTAACAATAACATTTTCTGTTCCAAACAAAGATGTTTTCCAAGAACTAGAAAAA       c.1260
 C  Q  L  T  I  T  F  S  V  P  N  K  D  V  F  Q  E  L  E  K         p.420

          .   | 14     .         .         .         .         .    g.169469
 AGAGGAGTGGTT | TGTGACAAGCGGAATCCAAATGGCATTCGAGTGGCTCCAGTTCCTCTC    c.1320
 R  G  V  V   | C  D  K  R  N  P  N  G  I  R  V  A  P  V  P  L      p.440

          .         .         .         .         .         .       g.169529
 TATAATTCTTTCCATGATGTTTATAAATTTACCAATCTGCTCACTTCTATACTTGACTCT       c.1380
 Y  N  S  F  H  D  V  Y  K  F  T  N  L  L  T  S  I  L  D  S         p.460

          .                                                         g.169547
 GCAGAAACAAAAAATTAG                                                 c.1398
 A  E  T  K  N  X                                                   p.465

          .         .         .         .         .         .       g.169607
 cagtgttttctagaacaacttaagcaaattatactgaaagctgctgtggttatttcagta       c.*60

          .         .         .         .         .         .       g.169667
 ttattcgatttttaattattgaaagtatgtcaccattgaccacatgtaactaacaataaa       c.*120

          .         .                                               g.169691
 taatataccttacagaaaatctga                                           c.*144

 (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 Kynureninase 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.