quinoid dihydropteridine reductase (QDPR) - coding DNA reference sequence

(used for variant description)

(last modified November 6, 2022)

This file was created to facilitate the description of sequence variants on transcript NM_000320.2 in the QDPR gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000004.11, covering QDPR transcript NM_000320.2.

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

 (upstream sequence)
 .         .         .         .         .         .                g.5060
 acagtccctccgggtggcggggcgccccgagcgtggcagcgcgctaggcggcagcagcgg       c.-121

 .         .         .         .         .         .                g.5120
 gcgcggagcggggcgcggccgccgcgcgttccctcttggcggggttggccggccggggcg       c.-61

 .         .         .         .         .         .                g.5180
 gggcgcggcgctccggctcgaggcattcggagctgcgggagccgggctggcaggagcagg       c.-1

          .         .         .         .         .         .       g.5240
 ATGGCGGCGGCGGCGGCTGCAGGCGAGGCGCGCCGGGTGCTGGTGTACGGCGGCAGGGGC       c.60
 M  A  A  A  A  A  A  G  E  A  R  R  V  L  V  Y  G  G  R  G         p.20

          .         .         .         .      | 02  .         .    g.7886
 GCTCTGGGTTCTCGATGCGTGCAGGCTTTTCGGGCCCGCAACTGG | TGGGTTGCCAGCGTT    c.120
 A  L  G  S  R  C  V  Q  A  F  R  A  R  N  W   | W  V  A  S  V      p.40

          .         .         .         .         .         .       g.7946
 GATGTGGTGGAGAATGAAGAGGCCAGCGCTAGCATCATTGTTAAAATGACAGACTCGTTC       c.180
 D  V  V  E  N  E  E  A  S  A  S  I  I  V  K  M  T  D  S  F         p.60

          .         | 03         .         .         .         .    g.12801
 ACTGAGCAGGCTGACCAG | GTGACTGCTGAGGTTGGAAAGCTCTTGGGTGAAGAGAAGGTG    c.240
 T  E  Q  A  D  Q   | V  T  A  E  V  G  K  L  L  G  E  E  K  V      p.80

          .         .         .         .         .      | 04  .    g.15380
 GATGCAATTCTTTGCGTTGCTGGAGGATGGGCCGGGGGCAATGCCAAATCCAAGT | CTCTC    c.300
 D  A  I  L  C  V  A  G  G  W  A  G  G  N  A  K  S  K  S |   L      p.100

          .         .         .         .         .         .       g.15440
 TTTAAGAACTGTGACCTGATGTGGAAGCAGAGCATATGGACATCGACCATCTCCAGCCAT       c.360
 F  K  N  C  D  L  M  W  K  Q  S  I  W  T  S  T  I  S  S  H         p.120

          .         .         .         .         .         .       g.15500
 CTGGCTACCAAGCATCTCAAGGAAGGAGGCCTCCTGACCTTGGCTGGCGCAAAGGCTGCC       c.420
 L  A  T  K  H  L  K  E  G  G  L  L  T  L  A  G  A  K  A  A         p.140

          .       | 05 .         .         .         .         .    g.24938
 CTGGATGGGACTCCTG | GTATGATCGGGTACGGCATGGCCAAGGGTGCTGTTCACCAGCTC    c.480
 L  D  G  T  P  G |   M  I  G  Y  G  M  A  K  G  A  V  H  Q  L      p.160

          .         .         .         .         .         .       g.24998
 TGCCAGAGCCTGGCTGGGAAGAACAGCGGCATGCCGCCCGGGGCAGCCGCCATCGCTGTG       c.540
 C  Q  S  L  A  G  K  N  S  G  M  P  P  G  A  A  A  I  A  V         p.180

       | 06  .         .         .         .         .         .    g.26544
 CTCCC | GGTTACCCTGGATACCCCGATGAACAGGAAATCAATGCCTGAGGCTGACTTCAGC    c.600
 L  P  |  V  T  L  D  T  P  M  N  R  K  S  M  P  E  A  D  F  S      p.200

          .         .          | 07        .         .         .    g.30029
 TCCTGGACACCCTTAGAATTCCTAGTTGA | AACTTTCCATGACTGGATCACAGGGAAAAAC    c.660
 S  W  T  P  L  E  F  L  V  E  |  T  F  H  D  W  I  T  G  K  N      p.220

          .         .         .         .         .         .       g.30089
 CGACCGAGCTCAGGAAGCCTAATCCAGGTGGTAACCACAGAAGGAAGGACGGAACTCACC       c.720
 R  P  S  S  G  S  L  I  Q  V  V  T  T  E  G  R  T  E  L  T         p.240

          .                                                         g.30104
 CCAGCATATTTTTAG                                                    c.735
 P  A  Y  F  X                                                      p.244

          .         .         .         .         .         .       g.30164
 gcctcatctcagtgcctatgaggggcctgccagaaaagtcactaacctgtctcagtgtgg       c.*60

          .         .         .         .         .         .       g.30224
 ccttgtccagccttgtgttttctgtaacccctgtttgtggtacgagataatgagtcctat       c.*120

          .         .         .         .         .         .       g.30284
 ttttctctcacataatatgcatttgctctcctaggacagtgtaatacatttatgtgaagt       c.*180

          .         .         .         .         .         .       g.30344
 aaagacatgcgagactggtggcctgcaaatagcatccgttgatctgtgttaactgcatag       c.*240

          .         .         .         .         .         .       g.30404
 ggagggctctgcatagcacctgctatagcggtgtcatgttggatcgcttttgtgactgtt       c.*300

          .         .         .         .         .         .       g.30464
 catctgtccttgacagtggctgtcatcttgactactttgttgatttgttggtattgggga       c.*360

          .         .         .         .         .         .       g.30524
 cattttaaaggctgagttatttttgaatgtcatgtttatgtcatagacgtagttttcgca       c.*420

          .         .         .         .         .         .       g.30584
 tccttgaattaaactgccttaactccttttgtggtataagcaaaactacatggactctgt       c.*480

          .         .         .         .         .         .       g.30644
 cctggtatccttttcctgtgtggttgccccgtgtcctctggcctagggttaagtgtgcaa       c.*540

          .         .         .         .         .         .       g.30704
 gataactactcgtgagtattcagaatgttgttcctaataaatgcacttgttgtctgtctt       c.*600

          .         .         .         .         .         .       g.30764
 ctttaatcaaatcacatcttatatacagcagtcagagatgagtatactagaatcatggat       c.*660

          .         .         .         .         .         .       g.30824
 tgctggaggtcttttaatctgatgttctcagaagggggtggatttaaatcctgaaataaa       c.*720

          .                                                         g.30842
 tatttcaacacaagaaca                                                 c.*738

 (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 Quinoid dihydropteridine reductase 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.