adenine phosphoribosyltransferase (APRT) - coding DNA reference sequence

(used for variant description)

(last modified August 21, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_000485.2 in the APRT gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008013.1, covering APRT transcript NM_000485.2.

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

 (upstream sequence)
                               .         .         .                g.5035
                          gcgctcgggctgccgctggctcttcgcacgcggcc       c.-1

          .         .         .         .         .         .       g.5095
 ATGGCCGACTCCGAGCTGCAGCTGGTTGAGCAGCGGATCCGCAGCTTCCCCGACTTCCCC       c.60
 M  A  D  S  E  L  Q  L  V  E  Q  R  I  R  S  F  P  D  F  P         p.20

          .         . | 02       .         .         .         .    g.5318
 ACCCCAGGCGTGGTATTCAG | GGACATCTCGCCCGTCCTGAAGGACCCCGCCTCCTTCCGC    c.120
 T  P  G  V  V  F  R  |  D  I  S  P  V  L  K  D  P  A  S  F  R      p.40

          .         .         .         .         .         .       g.5378
 GCCGCCATCGGCCTCCTGGCGCGACACCTGAAGGCGACCCACGGGGGCCGCATCGACTAC       c.180
 A  A  I  G  L  L  A  R  H  L  K  A  T  H  G  G  R  I  D  Y         p.60

         | 03.         .         .         .         .         .    g.6431
 ATCGCAG | GCCTAGACTCCCGAGGCTTCCTCTTTGGCCCCTCCCTGGCCCAGGAGCTTGGA    c.240
 I  A  G |   L  D  S  R  G  F  L  F  G  P  S  L  A  Q  E  L  G      p.80

          .         .         .         .         .         .       g.6491
 CTGGGCTGCGTGCTCATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCTGTGGGCCTCC       c.300
 L  G  C  V  L  I  R  K  R  G  K  L  P  G  P  T  L  W  A  S         p.100

          .         .  | 04      .         .         .         .    g.6825
 TATTCCCTGGAGTACGGGAAG | GCTGAGCTGGAGATTCAGAAAGACGCCCTGGAGCCAGGA    c.360
 Y  S  L  E  Y  G  K   | A  E  L  E  I  Q  K  D  A  L  E  P  G      p.120

          .         .         .         . | 05       .         .    g.7114
 CAGAGGGTGGTCGTCGTGGATGATCTGCTGGCCACTGGTG | GAACCATGAACGCTGCCTGT    c.420
 Q  R  V  V  V  V  D  D  L  L  A  T  G  G |   T  M  N  A  A  C      p.140

          .         .         .         .         .         .       g.7174
 GAGCTGCTGGGCCGCCTGCAGGCTGAGGTCCTGGAGTGCGTGAGCCTGGTGGAGCTGACC       c.480
 E  L  L  G  R  L  Q  A  E  V  L  E  C  V  S  L  V  E  L  T         p.160

          .         .         .         .         .         .       g.7234
 TCGCTTAAGGGCAGGGAGAAGCTGGCACCTGTACCCTTCTTCTCTCTCCTGCAGTATGAG       c.540
 S  L  K  G  R  E  K  L  A  P  V  P  F  F  S  L  L  Q  Y  E         p.180

                                                                    g.7237
 TGA                                                                c.543
 X                                                                  p.180

          .         .         .         .         .         .       g.7297
 ccacagggcctcccagcccaacatctccagctggatcccagggaaatatcagccttgggc       c.*60

          .         .         .         .         .         .       g.7357
 aactgcagtgaccaggggcaccggctgcccacagggaacacattcctttgctggggttca       c.*120

          .         .         .         .         .         .       g.7417
 gcgcctctcctggggctggaagtgccaaagcctggggcaaagctgtgtttcagccacact       c.*180

          .         .         .         .                           g.7466
 gaacccaattacacacagcgggagaacgcagtaaacagctttcccacaa                  c.*229

 (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 Adenine phosphoribosyltransferase 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.