inosine triphosphatase (nucleoside triphosphate pyrophosphatase) (ITPA) - coding DNA reference sequence

(used for variant description)

(last modified January 3, 2022)

This file was created to facilitate the description of sequence variants on transcript NM_033453.3 in the ITPA gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000020.10, covering ITPA transcript NM_033453.3.

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

 (upstream sequence)
                                                   .                g.5504
                                                 gcaaatcggacg       c.-181

 .         .         .         .         .         .                g.5564
 ctgtgggctaggccgccaccgcgagcccactcgcccgatacgcgccttggggtccgggtc       c.-121

 .         .         .         .         .         .                g.5624
 ggctttccccgggacccctggccggaaactgagccgttcacttccgccaccagccggaag       c.-61

 .         .         .         .         .         .                g.5684
 ttttctgtcactggacgccaaggagttttcggtggctcagctgggtaaccggggatcacc       c.-1

          .         .         .         .         .         .       g.5744
 ATGGCGGCCTCATTGGTGGGGAAGAAGATCGTGTTTGTAACGGGGAACGCCAAGAAGCTG       c.60
 M  A  A  S  L  V  G  K  K  I  V  F  V  T  G  N  A  K  K  L         p.20

        | 02 .         .         .         .         .         .    g.9355
 GAGGAG | GTCGTTCAGATTCTAGGAGATAAGTTTCCATGCACTTTGGTGGCACAGAAAATT    c.120
 E  E   | V  V  Q  I  L  G  D  K  F  P  C  T  L  V  A  Q  K  I      p.40

      | 03   .         .         .         .         .         .    g.9507
 GACC | TGCCGGAGTACCAGGGGGAGCCGGATGAGATTTCCATACAGAAATGTCAGGAGGCA    c.180
 D  L |   P  E  Y  Q  G  E  P  D  E  I  S  I  Q  K  C  Q  E  A      p.60

           | 04        .         .         .         .         .    g.10168
 GTTCGCCAG | GTACAGGGGCCCGTGCTGGTTGAGGACACTTGTCTGTGCTTCAATGCCCTT    c.240
 V  R  Q   | V  Q  G  P  V  L  V  E  D  T  C  L  C  F  N  A  L      p.80

          .         .    | 05    .         .         .      | 06  . g.14654
 GGAGGGCTCCCCGGCCCCTACAT | AAAGTGGTTTCTGGAGAAGTTAAAGCCTGAAG | GTCTC c.300
 G  G  L  P  G  P  Y  I  |  K  W  F  L  E  K  L  K  P  E  G |   L   p.100

          .         .         .         .         .         .       g.14714
 CACCAGCTCCTGGCCGGGTTCGAGGACAAGTCAGCCTATGCGCTCTGCACGTTTGCACTC       c.360
 H  Q  L  L  A  G  F  E  D  K  S  A  Y  A  L  C  T  F  A  L         p.120

          .         .         .         .         .  | 07      .    g.17982
 AGCACCGGGGACCCAAGCCAGCCCGTGCGCCTGTTCAGGGGCCGGACCTCG | GGCCGGATC    c.420
 S  T  G  D  P  S  Q  P  V  R  L  F  R  G  R  T  S   | G  R  I      p.140

          .         .         .         .         .         .       g.18042
 GTGGCACCCAGAGGCTGCCAGGACTTTGGCTGGGACCCCTGCTTTCAGCCTGATGGATAT       c.480
 V  A  P  R  G  C  Q  D  F  G  W  D  P  C  F  Q  P  D  G  Y         p.160

          | 08         .         .         .         .         .    g.19550
 GAGCAGAC | GTACGCAGAGATGCCTAAGGCGGAGAAGAACGCTGTCTCCCATCGCTTCCGG    c.540
 E  Q  T  |  Y  A  E  M  P  K  A  E  K  N  A  V  S  H  R  F  R      p.180

          .         .         .         .                           g.19595
 GCCCTGCTGGAGCTGCAGGAGTACTTTGGCAGTTTGGCAGCTTGA                      c.585
 A  L  L  E  L  Q  E  Y  F  G  S  L  A  A  X                        p.194

          .         .         .         .         .         .       g.19655
 cttctgcagctggaggaggcccctcaggccggggatctggggagggctagcccaaaacct       c.*60

          .         .         .         .         .         .       g.19715
 cccgcatcgggcaggcaccccctgaagtacttccttcagggtttcccctttgtgagggtg       c.*120

          .         .         .         .         .         .       g.19775
 tcgagtagcctcaccggcctgtctggaggagcagctggctctgctctgagaaactctggc       c.*180

          .         .         .         .         .         .       g.19835
 aagtggacgccattctcttgcccttaggattcactgctctctcctacagccgccaggcct       c.*240

          .         .         .         .         .         .       g.19895
 ggggtcctgaaaggaccttgggtggtaaagctgtacttggtgggagtgagggcgtgggga       c.*300

          .         .         .         .         .         .       g.19955
 ggaaccatgcaaatcgccttccatggtttttaaatgcagtaaataacatttctggatgag       c.*360

          .         .         .         .                           g.20003
 acttgtttccaaaataaaccagctatatctgttttgaaccctgcccca                   c.*408

 (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 Inosine triphosphatase (nucleoside triphosphate pyrophosphatase) 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.