uroporphyrinogen III synthase (UROS) - coding DNA reference sequence

(used for variant description)

(last modified November 9, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_000375.2 in the UROS gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_011557.1, covering UROS transcript NM_000375.2.

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

 (upstream sequence)
                                         .         .                g.5026
                                   atggcggtgcgcatgcgcgagcgcct       c.-241

 .         .         .         .         .         .                g.5086
 agctgcgcgcagccacccacgcgaccccagtctgaggtgcggggtcctggggcccggcgc       c.-181

 .         .         .         .         .         .                g.5146
 gggtggccgccgcggcccctcgggctgcgtggggagggggcttccgcccctgttgtcatt       c.-121

 .         .         .         .         .         .                g.5206
 gctcctgcagccttttcgctgggactgcgcgacaccgccccccgaccgggtgcccgctgt       c.-61

 .         .         .         .    | 02    .         .             g.11769
 gtgccaggccgggtgctgggcacggtcccgcgag | tgccctataaggactgccaggcaata    c.-1

          .         .         .         .         .         .       g.11829
 ATGAAGGTTCTTTTACTGAAGGATGCGAAGGAAGATGACTGTGGCCAGGATCCGTATATC       c.60
 M  K  V  L  L  L  K  D  A  K  E  D  D  C  G  Q  D  P  Y  I         p.20

     | 03    .         .         .         .         .         .    g.12065
 AGG | GAATTAGGATTATATGGACTTGAAGCCACTTTGATCCCTGTTTTATCGTTTGAGTTT    c.120
 R   | E  L  G  L  Y  G  L  E  A  T  L  I  P  V  L  S  F  E  F      p.40

          .         .        | 04.         .         .         .    g.13171
 TTGTCTCTTCCCAGTTTCTCTGAGAAG | CTTTCTCATCCTGAAGATTACGGGGGACTCATT    c.180
 L  S  L  P  S  F  S  E  K   | L  S  H  P  E  D  Y  G  G  L  I      p.60

          .         .         .         .         .         .       g.13231
 TTTACCAGCCCCAGAGCAGTGGAAGCAGCAGAGTTATGTTTGGAGCAAAACAATAAAACT       c.240
 F  T  S  P  R  A  V  E  A  A  E  L  C  L  E  Q  N  N  K  T         p.80

      | 05   .         .         .         .         .         .    g.16036
 GAAG | TCTGGGAAAGGTCTCTGAAAGAAAAATGGAATGCCAAGTCAGTGTATGTGGTTGGA    c.300
 E  V |   W  E  R  S  L  K  E  K  W  N  A  K  S  V  Y  V  V  G      p.100

          .          | 06        .         .         .         .    g.20822
 AATGCTACTGCTTCTCTAG | TGAGTAAAATTGGCCTGGATACAGAAGGAGAAACCTGTGGA    c.360
 N  A  T  A  S  L  V |   S  K  I  G  L  D  T  E  G  E  T  C  G      p.120

          .         .         .     | 07   .         .         .    g.30149
 AATGCAGAAAAGCTTGCAGAATATATTTGTTCCA | GGGAGTCCTCAGCACTGCCTCTTCTA    c.420
 N  A  E  K  L  A  E  Y  I  C  S  R |   E  S  S  A  L  P  L  L      p.140

          .         .         .         .         .      | 08  .    g.32085
 TTTCCCTGTGGAAACCTCAAAAGAGAAATCCTGCCAAAAGCGCTCAAGGACAAAG | GGATT    c.480
 F  P  C  G  N  L  K  R  E  I  L  P  K  A  L  K  D  K  G |   I      p.160

          .         .         .         .         .         .       g.32145
 GCCATGGAAAGCATAACTGTGTATCAGACAGTTGCACACCCAGGAATCCAAGGGAACCTG       c.540
 A  M  E  S  I  T  V  Y  Q  T  V  A  H  P  G  I  Q  G  N  L         p.180

          .         .  | 09      .         .         .         .    g.33329
 AACAGCTACTATTCCCAGCAG | GGGGTTCCAGCCAGCATCACATTTTTTAGTCCCTCTGGC    c.600
 N  S  Y  Y  S  Q  Q   | G  V  P  A  S  I  T  F  F  S  P  S  G      p.200

          .         .         .         .         .         .       g.33389
 CTCACATACAGTCTCAAGCACATTCAGGAGTTATCTGGTGACAATATCGATCAAATTAAG       c.660
 L  T  Y  S  L  K  H  I  Q  E  L  S  G  D  N  I  D  Q  I  K         p.220

  | 10       .         .         .         .         .         .    g.39323
  | TTTGCAGCCATCGGCCCCACTACGGCTCGCGCGCTGGCCGCCCAGGGCCTTCCTGTAAGC    c.720
  | F  A  A  I  G  P  T  T  A  R  A  L  A  A  Q  G  L  P  V  S      p.240

          .         .         .         .         .         .       g.39383
 TGCACTGCAGAGAGCCCCACGCCACAAGCCCTGGCCACTGGCATCAGGAAGGCTCTCCAG       c.780
 C  T  A  E  S  P  T  P  Q  A  L  A  T  G  I  R  K  A  L  Q         p.260

          .                                                         g.39401
 CCCCATGGCTGCTGCTGA                                                 c.798
 P  H  G  C  C  X                                                   p.265

          .         .         .         .         .         .       g.39461
 gtcagccacctagcgctggccccatgcagcctccctgggctgggctggctctggatggag       c.*60

          .         .         .         .         .         .       g.39521
 ccaggcatcggcaagggctctcgggagctgctgccgtcagactcctgcctcaagcctgag       c.*120

          .         .         .         .         .         .       g.39581
 tggaagcacctgaggaccggggatcgggacctgacctggggctggcctcaggcccacgtg       c.*180

          .         .         .         .         .         .       g.39641
 cacgtgactgccctctgtggaagccagcttaaaccctagccctgtgagagcttcctgtgc       c.*240

          .         .         .         .         .                 g.39691
 ccagcaggaaggaagtcaaataaaccacactgactacctgtgcttactga                 c.*290

 (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 Uroporphyrinogen III synthase 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.