pseudouridylate synthase 3 (PUS3) - coding DNA reference sequence

(used for variant description)

(last modified February 24, 2022)

This file was created to facilitate the description of sequence variants on transcript NM_031307.3 in the PUS3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000011.9, covering PUS3 transcript NM_031307.3.

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

 (upstream sequence)
                               .         .         .                g.5038
                       gcacagtgacagcttcctttctcggaaacgcggcgcgg       c.-61

 .         .    | 02    .         .         .         .             g.11937
 ccggctgccggaaa | acagggcagacctgtatggttcgtttattcctggggttgtcatatc    c.-1

          .         .         .         .         .         .       g.11997
 ATGGCTTATAATGACACAGACAGAAACCAGACTGAGAAGCTCCTAAAAAGAGTACGAGAA       c.60
 M  A  Y  N  D  T  D  R  N  Q  T  E  K  L  L  K  R  V  R  E         p.20

          .         .         .         .         .         .       g.12057
 CTGGAGCAAGAGGTGCAAAGACTTAAAAAGGAACAGGCCAAAAATAAGGAGGACTCAAAC       c.120
 L  E  Q  E  V  Q  R  L  K  K  E  Q  A  K  N  K  E  D  S  N         p.40

          .         .         .         .         .         .       g.12117
 ATTAGAGAAAATTCAGCAGGAGCTGGAAAAACTAAGCGTGCATTTGATTTCAGTGCTCAT       c.180
 I  R  E  N  S  A  G  A  G  K  T  K  R  A  F  D  F  S  A  H         p.60

          .         .         .         .         .         .       g.12177
 GGCCGAAGACACGTAGCCCTAAGAATAGCCTATATGGGCTGGGGATACCAGGGCTTTGCT       c.240
 G  R  R  H  V  A  L  R  I  A  Y  M  G  W  G  Y  Q  G  F  A         p.80

          .         .         .         .         .         .       g.12237
 AGTCAGGAAAACACAAATAATACCATTGAAGAGAAACTGTTTGAAGCTCTAACCAAGACT       c.300
 S  Q  E  N  T  N  N  T  I  E  E  K  L  F  E  A  L  T  K  T         p.100

          .         .         .         .         .         .       g.12297
 CGACTAGTAGAAAGCAGACAGACATCCAACTATCACCGATGTGGGAGAACAGATAAAGGA       c.360
 R  L  V  E  S  R  Q  T  S  N  Y  H  R  C  G  R  T  D  K  G         p.120

          .         | 03         .         .         .         .    g.12474
 GTTAGTGCCTTTGGACAG | GTGATCTCACTTGACCTTCGCTCTCAGTTTCCAAGGGGCAGG    c.420
 V  S  A  F  G  Q   | V  I  S  L  D  L  R  S  Q  F  P  R  G  R      p.140

          .         .         .         .         .         .       g.12534
 GATTCCGAGGACTTTAATGTAAAAGAGGAGGCTAATGCTGCTGCTGAAGAGATCCGTTAT       c.480
 D  S  E  D  F  N  V  K  E  E  A  N  A  A  A  E  E  I  R  Y         p.160

          .         .         .         .         .         .       g.12594
 ACCCACATTCTCAATCGGGTACTCCCTCCAGACATCCGTATATTGGCCTGGGCCCCTGTA       c.540
 T  H  I  L  N  R  V  L  P  P  D  I  R  I  L  A  W  A  P  V         p.180

          .         .         .         .         .         .       g.12654
 GAACCAAGCTTCAGTGCTAGGTTCAGCTGCCTTGAGCGGACTTACCGCTATTTTTTCCCT       c.600
 E  P  S  F  S  A  R  F  S  C  L  E  R  T  Y  R  Y  F  F  P         p.200

          .         .         .         .         .         .       g.12714
 CGTGCTGATTTAGATATTGTAACCATGGATTATGCAGCTCAGAAGTATGTTGGCACCCAT       c.660
 R  A  D  L  D  I  V  T  M  D  Y  A  A  Q  K  Y  V  G  T  H         p.220

          .         .         .         .         .         .       g.12774
 GATTTCAGGAACTTGTGTAAAATGGATGTAGCCAACGGTGTGATTAATTTTCAGAGGACT       c.720
 D  F  R  N  L  C  K  M  D  V  A  N  G  V  I  N  F  Q  R  T         p.240

          .         .         .         .         .         .       g.12834
 ATTCTATCTGCTCAAGTACAGCTAGTGGGCCAGAGCCCAGGTGAGGGGAGATGGCAAGAA       c.780
 I  L  S  A  Q  V  Q  L  V  G  Q  S  P  G  E  G  R  W  Q  E         p.260

          .         .         .         .         .         .       g.12894
 CCTTTCCAGTTATGTCAGTTTGAAGTGACTGGCCAGGCATTCCTTTATCATCAAGTCCGA       c.840
 P  F  Q  L  C  Q  F  E  V  T  G  Q  A  F  L  Y  H  Q  V  R         p.280

          .         .         .         .         .         .       g.12954
 TGTATGATGGCTATCCTCTTTCTGATTGGCCAAGGAATGGAGAAGCCAGAGATTATTGAT       c.900
 C  M  M  A  I  L  F  L  I  G  Q  G  M  E  K  P  E  I  I  D         p.300

          .         .         .         .     | 04   .         .    g.13951
 GAGCTGCTGAATATAGAGAAAAATCCCCAAAAGCCTCAATATAG | TATGGCTGTAGAATTT    c.960
 E  L  L  N  I  E  K  N  P  Q  K  P  Q  Y  S  |  M  A  V  E  F      p.320

          .         .         .         .         .         .       g.14011
 CCTCTAGTCTTATATGACTGTAAGTTTGAAAATGTCAAGTGGATCTATGACCAGGAGGCT       c.1020
 P  L  V  L  Y  D  C  K  F  E  N  V  K  W  I  Y  D  Q  E  A         p.340

          .         .         .         .         .         .       g.14071
 CAGGAGTTCAATATTACCCACCTACAACAACTGTGGGCTAATCATGCTGTCAAAACTCAC       c.1080
 Q  E  F  N  I  T  H  L  Q  Q  L  W  A  N  H  A  V  K  T  H         p.360

          .         .         .         .         .         .       g.14131
 ATGTTGTATAGTATGCTACAAGGACTGGACACTGTTCCAGTACCCTGTGGAATAGGACCA       c.1140
 M  L  Y  S  M  L  Q  G  L  D  T  V  P  V  P  C  G  I  G  P         p.380

          .         .         .         .         .         .       g.14191
 AAGATGGATGGAATGACAGAATGGGGAAATGTTAAGCCCTCTGTCATAAAGCAGACCAGT       c.1200
 K  M  D  G  M  T  E  W  G  N  V  K  P  S  V  I  K  Q  T  S         p.400

          .         .         .         .         .         .       g.14251
 GCCTTTGTAGAAGGAGTGAAGATGCGCACATATAAGCCCCTCATGGACCGTCCTAAATGC       c.1260
 A  F  V  E  G  V  K  M  R  T  Y  K  P  L  M  D  R  P  K  C         p.420

          .         .         .         .         .         .       g.14311
 CAAGGACTGGAATCCCGGATCCAGCATTTTGTACGTAGGGGACGAATTGAGCACCCACAT       c.1320
 Q  G  L  E  S  R  I  Q  H  F  V  R  R  G  R  I  E  H  P  H         p.440

          .         .         .         .         .         .       g.14371
 TTATTCCATGAGGAAGAAACAAAAGCCAAAAGGGACTGTAATGACACACTAGAGGAAGAG       c.1380
 L  F  H  E  E  E  T  K  A  K  R  D  C  N  D  T  L  E  E  E         p.460

          .         .         .         .         .         .       g.14431
 AATACTAATTTGGAGACACCAACGAAGAGGGTCTGTGTTGACACAGAAATTAAAAGCATC       c.1440
 N  T  N  L  E  T  P  T  K  R  V  C  V  D  T  E  I  K  S  I         p.480

                                                                    g.14437
 ATTTAA                                                             c.1446
 I  X                                                               p.481

          .         .         .         .         .         .       g.14497
 ccatagacaatttgccaggatctaggaaccacctaatggtaggtggacagaaaaggaaaa       c.*60

          .         .         .         .         .         .       g.14557
 aaaaaaaaatttacttgcaagtactaggaattcagatgatcagctcttaaaagaaaaaaa       c.*120

          .         .         .         .         .         .       g.14617
 aaagcaaaaagactaaagccctattaaggaagttattgctttaataagaaatttcaaata       c.*180

          .         .         .         .         .         .       g.14677
 ttctcttatcccggtccaaaaggattaagcgattaaagaacgtaaaatggagatgtattt       c.*240

          .         .         .         .         .         .       g.14737
 acatacacctggaaacctgtgccttgtattcaaattcattaaagcctaatcctgcaagta       c.*300

 

 (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 Pseudouridylate synthase 3 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.