phosphoribosyl pyrophosphate synthetase 1 (PRPS1) - coding DNA reference sequence

(used for variant description)

(last modified November 20, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_002764.3 in the PRPS1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008407.1, covering PRPS1 transcript NM_002764.3.

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

 (upstream sequence)
                                         .         .                g.5025
                                    agctaatcgttgccagcggggtgtg       c.-181

 .         .         .         .         .         .                g.5085
 gacttcgccgctgaccccacctccgccgctttgggtaatttagagccgcgcgccgggcgg       c.-121

 .         .         .         .         .         .                g.5145
 gaatgtaagatggcggagtagcaacgcaaagcgcttggtattgagtctgtggccgacttc       c.-61

 .         .         .         .         .         .                g.5205
 ggttccggtctctgcagcagccgtgatcgcttagtggagtgcttagggtagttggccagg       c.-1

          .         .         .         .         .         .       g.5265
 ATGCCGAATATCAAAATCTTCAGCGGCAGCTCCCACCAGGACTTATCTCAGAAAATTGCT       c.60
 M  P  N  I  K  I  F  S  G  S  S  H  Q  D  L  S  Q  K  I  A         p.20

          .         .         .         .         .         .       g.5325
 GACCGCCTGGGCCTGGAGCTAGGCAAGGTGGTGACTAAGAAATTCAGCAACCAGGAGACC       c.120
 D  R  L  G  L  E  L  G  K  V  V  T  K  K  F  S  N  Q  E  T         p.40

    | 02     .         .         .         .         .         .    g.15929
 TG | TGTGGAAATTGGTGAAAGTGTACGTGGAGAGGATGTCTACATTGTTCAGAGTGGTTGT    c.180
 C  |  V  E  I  G  E  S  V  R  G  E  D  V  Y  I  V  Q  S  G  C      p.60

          .         .         .         .         .         .       g.15989
 GGCGAAATCAATGACAATTTAATGGAGCTTTTGATCATGATTAATGCCTGCAAGATTGCT       c.240
 G  E  I  N  D  N  L  M  E  L  L  I  M  I  N  A  C  K  I  A         p.80

          .         .         .         .         .         .       g.16049
 TCAGCCAGCCGGGTTACTGCAGTCATCCCATGCTTCCCTTATGCCCGGCAGGATAAGAAA       c.300
 S  A  S  R  V  T  A  V  I  P  C  F  P  Y  A  R  Q  D  K  K         p.100

        | 03 .         .         .         .         .         .    g.17532
 GATAAG | AGCCGGGCGCCAATCTCAGCCAAGCTTGTTGCAAATATGCTATCTGTAGCAGGT    c.360
 D  K   | S  R  A  P  I  S  A  K  L  V  A  N  M  L  S  V  A  G      p.120

          .         .         .         .      | 04  .         .    g.18957
 GCAGATCATATTATCACCATGGACCTACATGCTTCTCAAATTCAG | GGCTTTTTTGATATC    c.420
 A  D  H  I  I  T  M  D  L  H  A  S  Q  I  Q   | G  F  F  D  I      p.140

          .         .         .         .         .         .       g.19017
 CCAGTAGACAATTTGTATGCAGAGCCGGCTGTCCTAAAGTGGATAAGGGAGAATATCTCT       c.480
 P  V  D  N  L  Y  A  E  P  A  V  L  K  W  I  R  E  N  I  S         p.160

          .         .         .         .         . | 05       .    g.21763
 GAGTGGAGGAACTGCACTATTGTCTCACCTGATGCTGGTGGAGCTAAGAG | AGTGACCTCC    c.540
 E  W  R  N  C  T  I  V  S  P  D  A  G  G  A  K  R  |  V  T  S      p.180

          .         .         .         .         .         .       g.21823
 ATTGCAGACAGGCTGAATGTGGACTTTGCCTTGATTCACAAAGAACGGAAGAAGGCCAAT       c.600
 I  A  D  R  L  N  V  D  F  A  L  I  H  K  E  R  K  K  A  N         p.200

          .         .         .         .         .         .       g.21883
 GAAGTGGACCGCATGGTGCTTGTGGGAGATGTGAAGGATCGGGTGGCCATCCTTGTGGAT       c.660
 E  V  D  R  M  V  L  V  G  D  V  K  D  R  V  A  I  L  V  D         p.220

          .         .         .         .     | 06   .         .    g.24198
 GACATGGCTGACACTTGTGGCACAATCTGCCATGCAGCTGACAA | ACTTCTCTCAGCTGGC    c.720
 D  M  A  D  T  C  G  T  I  C  H  A  A  D  K  |  L  L  S  A  G      p.240

          .         .         .         .         .         .       g.24258
 GCCACCAGAGTTTATGCCATCTTGACTCATGGAATCTTCTCCGGTCCTGCTATTTCTCGC       c.780
 A  T  R  V  Y  A  I  L  T  H  G  I  F  S  G  P  A  I  S  R         p.260

          .         .         .         .         .         .       g.24318
 ATCAACAACGCATGCTTTGAGGCAGTAGTAGTCACCAATACCATACCTCAGGAGGACAAG       c.840
 I  N  N  A  C  F  E  A  V  V  V  T  N  T  I  P  Q  E  D  K         p.280

          .         .     | 07   .         .         .         .    g.26552
 ATGAAGCATTGCTCCAAAATACAG | GTGATTGACATCTCTATGATCCTTGCAGAAGCCATC    c.900
 M  K  H  C  S  K  I  Q   | V  I  D  I  S  M  I  L  A  E  A  I      p.300

          .         .         .         .         .                 g.26609
 AGGAGAACTCACAATGGAGAATCCGTTTCTTACCTATTCAGCCATGTCCCTTTATAA          c.957
 R  R  T  H  N  G  E  S  V  S  Y  L  F  S  H  V  P  L  X            p.318

          .         .         .         .         .         .       g.26669
 tagagtaacttctgaggctttttgagaataaaatccaccccacccttgtttccccttggt       c.*60

          .         .         .         .         .         .       g.26729
 atttgatgacaaattcagcagaagacccggcttgctccagtgtagctttctacatcccac       c.*120

          .         .         .         .         .         .       g.26789
 atcaggtatattagagcttatccgaactggggaaagacggattgagattaactgctggga       c.*180

          .         .         .         .         .         .       g.26849
 cctcctacctgcattatctcattctggcttccttgataattctgtgggccttgcagcttt       c.*240

          .         .         .         .         .         .       g.26909
 aactatagctcagctgctgcaagatttcagacttttgaggatgttgtgtgagggtgtttg       c.*300

          .         .         .         .         .         .       g.26969
 actgtgactggggaagctcagactactttgtatgtgaatgcttcagggttttctttgttg       c.*360

          .         .         .         .         .         .       g.27029
 agaacaactagcaacaaaggcaacccatgtgtgaccagttctccccaaggtctatgctaa       c.*420

          .         .         .         .         .         .       g.27089
 attatagcaagagccctgggcaaccccaaacctagtcctggtagctgagcaccctgtaag       c.*480

          .         .         .         .         .         .       g.27149
 gcaggagcaggcagctcagcttgagcagacattgggtggggggtggggggtggttgaggg       c.*540

          .         .         .         .         .         .       g.27209
 gggaggcagcacagtgcagcaaatgtttcttgggaggaagaagcctgatccatcaccatc       c.*600

          .         .         .         .         .         .       g.27269
 tgcttgactatgtagcttggattctcctttgtacctatccctttcgatttggctttacct       c.*660

          .         .         .         .         .         .       g.27329
 tcatctatcttgatcctttcctggccaaatatcctcttgggcccaaatgaacattgtacc       c.*720

          .         .         .         .         .         .       g.27389
 atagtcttctggaaagcaaacatgcttcctgctatgtaattgctaacattcatattagat       c.*780

          .         .         .         .         .         .       g.27449
 gatgtgctgtagcttgatcttccttagcctactgccactgaggcagtaggttttaggtgg       c.*840

          .         .         .         .         .         .       g.27509
 tatcgtagtgccttttgattaatttaagtatttaattttcatcttccttctttggatcta       c.*900

          .         .         .         .         .         .       g.27569
 tttggcctctcaaatgaactgagattcctgttaaaaaagattgatgttattgtctcttgt       c.*960

          .         .         .                                     g.27603
 agaggaaactaataaagtgtgtgtacctgtgtga                                 c.*994

 (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 Phosphoribosyl pyrophosphate synthetase 1 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.