purine-rich element binding protein A (PURA) - coding DNA reference sequence

(used for variant description)

(last modified December 17, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_005859.4 in the PURA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_041813.1, covering PURA transcript NM_005859.4.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5059
  cgactgaggcggcgggcggagcggcaggcggcggcggcgcggcagcggagcgcagcatc       c.-1

          .         .         .         .         .         .       g.5119
 ATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCC       c.60
 M  A  D  R  D  S  G  S  E  Q  G  G  A  A  L  G  S  G  G  S         p.20

          .         .         .         .         .         .       g.5179
 CTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGC       c.120
 L  G  H  P  G  S  G  S  G  S  G  G  G  G  G  G  G  G  G  G         p.40

          .         .         .         .         .         .       g.5239
 GGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAG       c.180
 G  G  S  G  G  G  G  G  G  A  P  G  G  L  Q  H  E  T  Q  E         p.60

          .         .         .         .         .         .       g.5299
 CTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAAC       c.240
 L  A  S  K  R  V  D  I  Q  N  K  R  F  Y  L  D  V  K  Q  N         p.80

          .         .         .         .         .         .       g.5359
 GCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTT       c.300
 A  K  G  R  F  L  K  I  A  E  V  G  A  G  G  N  K  S  R  L         p.100

          .         .         .         .         .         .       g.5419
 ACTCTCTCCATGTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCAC       c.360
 T  L  S  M  S  V  A  V  E  F  R  D  Y  L  G  D  F  I  E  H         p.120

          .         .         .         .         .         .       g.5479
 TACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGC       c.420
 Y  A  Q  L  G  P  S  Q  P  P  D  L  A  Q  A  Q  D  E  P  R         p.140

          .         .         .         .         .         .       g.5539
 CGGGCGCTCAAAAGCGAGTTCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAG       c.480
 R  A  L  K  S  E  F  L  V  R  E  N  R  K  Y  Y  M  D  L  K         p.160

          .         .         .         .         .         .       g.5599
 GAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTG       c.540
 E  N  Q  R  G  R  F  L  R  I  R  Q  T  V  N  R  G  P  G  L         p.180

          .         .         .         .         .         .       g.5659
 GGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTTCCGTGAC       c.600
 G  S  T  Q  G  Q  T  I  A  L  P  A  Q  G  L  I  E  F  R  D         p.200

          .         .         .         .         .         .       g.5719
 GCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAG       c.660
 A  L  A  K  L  I  D  D  Y  G  V  E  E  E  P  A  E  L  P  E         p.220

          .         .         .         .         .         .       g.5779
 GGCACCTCCTTGACTGTGGACAACAAGCGCTTCTTCTTCGATGTGGGCTCCAACAAGTAC       c.720
 G  T  S  L  T  V  D  N  K  R  F  F  F  D  V  G  S  N  K  Y         p.240

          .         .         .         .         .         .       g.5839
 GGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCC       c.780
 G  V  F  M  R  V  S  E  V  K  P  T  Y  R  N  S  I  T  V  P         p.260

          .         .         .         .         .         .       g.5899
 TACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACTCGGAGGAGATGAAGAAG       c.840
 Y  K  V  W  A  K  F  G  H  T  F  C  K  Y  S  E  E  M  K  K         p.280

          .         .         .         .         .         .       g.5959
 ATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAG       c.900
 I  Q  E  K  Q  R  E  K  R  A  A  C  E  Q  L  H  Q  Q  Q  Q         p.300

          .         .         .         .         .         .       g.6019
 CAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAAGAAGGGGAA       c.960
 Q  Q  Q  E  E  T  A  A  A  T  L  L  L  Q  G  E  E  E  G  E         p.320

                                                                    g.6028
 GAAGATTGA                                                          c.969
 E  D  X                                                            p.322

          .         .         .         .         .         .       g.6088
 tcaaactgaatgaaacccccacacacacacacatgcatacacacacacacacagccacac       c.*60

          .         .         .         .         .         .       g.6148
 acacagaaaatatactgtaaagaaagagagaaaataaaaagttaaaaagttaaaaaaaaa       c.*120

          .         .         .         .         .         .       g.6208
 aaaaaacctgttaactccaagggagcaccacccacagaacctccaccaactgacagtttc       c.*180

          .         .         .         .         .         .       g.6268
 tcttcttgacttgccacccatcgctggatgttgtccactttatccaccatataaaacagt       c.*240

          .         .         .         .         .         .       g.6328
 aagcagctgctaaaaacaaaaaaaatacaaaaagtaataacattatatgaactgtgtttc       c.*300

          .         .         .         .         .         .       g.6388
 ctacttgattaaaaaatataaagaactgagtgtttatttccctaattaaccaagaacttt       c.*360

          .         .         .         .         .         .       g.6448
 tgtacacgtttaagctattattattaaaaagtgtttgcaaaatggtcaagattataatat       c.*420

          .         .         .         .         .         .       g.6508
 tgctgaattatataaaagtccttttcatgttgagctaacatttgactttagcacaaaaaa       c.*480

          .         .         .         .         .         .       g.6568
 gagatattttagaacacgtaaaataatatttttagtttttctcattttgttaccaaattt       c.*540

          .         .         .         .         .         .       g.6628
 caaaccttacatggaggttattatagtatatttgacaccctatatacctgtgattagaga       c.*600

          .         .         .         .         .         .       g.6688
 tgtgtatatatatgagggctaggcatgctgtgtgtctgagctttgtctaaatgttatgca       c.*660

          .         .         .         .         .         .       g.6748
 gaagtttgtagagttaaaggtacgtaggtttaattcatgcaaggtaaacaataagtgctc       c.*720

          .         .         .         .         .         .       g.6808
 tcttttatacaatatgcattgcatctggaccttaaacttataaaaatggtcagtgaaact       c.*780

          .         .         .         .         .         .       g.6868
 tctgtgaacatgaagaaattattaaaaaaggcatttaaatgaaatttgctaagttgtgat       c.*840

          .         .         .         .         .         .       g.6928
 ttttatggttggaaccaaagttattcaaatagtaaaaggaaaaagaaagaaaaaggagat       c.*900

          .         .         .         .         .         .       g.6988
 ctcccataatatttttctgcatctgtttgctttgactgagtaggcgttttgtcattattg       c.*960

          .         .         .         .         .         .       g.7048
 tgtatatgagatgtacttgtatcgttcataatatattttttttattatgtgtagaaagat       c.*1020

          .         .         .         .         .         .       g.7108
 tttaaaaaactaacgtgcagcaatttccagtgaacctgtacttggacatcaggtagtgag       c.*1080

          .         .         .         .         .         .       g.7168
 tctatttgtggtcactagcactgtctcctaaacttgtaagaggtctgaagctattctttg       c.*1140

          .         .         .         .         .         .       g.7228
 atttttgctagtgctattaacttatgtagacctgttaaaaagcagagcaacacaattata       c.*1200

          .         .         .         .         .         .       g.7288
 gttatcctactgagccatggattctgagttttgttttaaaagtgaaagccaagttggtgt       c.*1260

          .         .         .         .         .         .       g.7348
 atgtaaaggatttccatgtagctgtggtgctagttattactggctacattatatgctaag       c.*1320

          .         .         .         .         .         .       g.7408
 tgtatttgtgttccccaagtgtacaagccttctatcaaaagtatgttctataactcatat       c.*1380

          .         .         .         .         .         .       g.7468
 attcaaggtgtagggtatgaaaatgcaaagtttaggagagcactttaccaagctggtgtc       c.*1440

          .         .         .         .         .         .       g.7528
 ctccaaactgaaattgtttgtaacgatagtcttttacaggttttcctttaaagatgtttg       c.*1500

          .         .         .         .         .         .       g.7588
 tgtgcttttaattgacaactaacttcttgctgctgtatagtaaaatattaatatattttt       c.*1560

          .         .         .         .         .         .       g.7648
 atcattaaactgctgcatgactatcatctttgagtgaagagaaaatgttataaaaaagat       c.*1620

          .         .         .         .         .         .       g.7708
 gccttaaacagtacattttggtttggaattctgtagaaagtattttggtaaaaaaaaaaa       c.*1680

          .         .         .         .         .         .       g.7768
 aaaaaaaaaagggtcttgtctgacagagagttctggggatggaattgtttcttggcaaat       c.*1740

          .         .         .         .         .         .       g.7828
 ccagccatatagatctaactgctgtatgtataagacaccacctgtaggagcgggaaggta       c.*1800

          .         .         .         .         .         .       g.7888
 tcagtgcttcttatattgtaaagcattggcctaggaaggcaaacagttgtctttttgaag       c.*1860

          .         .         .         .         .         .       g.7948
 gatttttttctgctggtcctttgggttttgatttgatatttttatgctccctggttgagt       c.*1920

          .         .         .         .         .         .       g.8008
 gtgttgtcttcgtttttgagatctactgtatgtgttgaataacaagctattttcattgta       c.*1980

          .         .         .         .         .         .       g.8068
 ctgtgcattttcccattaaattgtttgcttttaatattcaatgttaaatatgaggtgacc       c.*2040

          .         .         .         .         .         .       g.8128
 gtacagtagttaggagtttctttacttacaaaatcactggaaatgattaaattgcttttc       c.*2100

          .         .         .         .         .         .       g.8188
 cccctccccagaggtgcatttttcttatttccatatagtaaagttgagcttttacagtgc       c.*2160

          .         .         .         .         .         .       g.8248
 ataatgtgacatttggaatgcttatcaactgcatgtaaacattaataacctgcacttttt       c.*2220

          .         .         .         .         .         .       g.8308
 tgtcttaaggtttgttgagctgttttgttcactgtactttaactgtgatatggaaaagac       c.*2280

          .         .         .         .         .         .       g.8368
 tgcattctctgtgctgttactaattaggaaagagaattgctttgattttgtctcttgttt       c.*2340

          .         .         .         .         .         .       g.8428
 actatagcttcttaaagttaagccttgtactacaggttgttggagtactcctagatcact       c.*2400

          .         .         .         .         .         .       g.8488
 gtttcatagtagccagcaataagtagtgcaagtcaacaaaaacacagcaaacttaggcaa       c.*2460

          .         .         .         .         .         .       g.8548
 agtgtcctttctttgagatgcgagttctttcatgaggttttctttagggccagagttacc       c.*2520

          .         .         .         .         .         .       g.8608
 taaagtgaagcctttcttatctatagacttcagattctgcttggaatcccaccggctcaa       c.*2580

          .         .         .         .         .         .       g.8668
 gaagcacatgtattgtgcaattaattgtctttacactaaaacagtttaatacaatctaac       c.*2640

          .         .         .         .         .         .       g.8728
 tacgattttgaaaccagtgtctgatttatggtcagtgggtttaaaaagaaatccacatgc       c.*2700

          .         .         .         .         .         .       g.8788
 agatcttttaagacttaaaaagtgatcatagaaaagactaagtgactgtaaagatgctct       c.*2760

          .         .         .         .         .         .       g.8848
 ttttttaagcatctcactttacctccccaagcaccctcccaaaccttgtcttccctcttc       c.*2820

          .         .         .         .         .         .       g.8908
 tgttgcatcctttccctacccttccctcccaggtgctcggtactttacctagtttctata       c.*2880

          .         .         .         .         .         .       g.8968
 tatcagtgttttatgttggaatttttccttgtttttattttactagttggtaaaccctgt       c.*2940

          .         .         .         .         .         .       g.9028
 ttatgctgaaacaaataaggaaatggtatatttgaccatatgtgttattcatagaagaca       c.*3000

          .         .         .         .         .         .       g.9088
 gtatgatcaaatgtgccaaaaacaagcaaacaaaacttaattcctgagaagtatgcctta       c.*3060

          .         .         .         .         .         .       g.9148
 tttttattgatctgctttgtcttacaattaaggtccaagagcttggttaaactgtattat       c.*3120

          .         .         .         .         .         .       g.9208
 ttgcctaagtataaaagaaaacttgaactgcattgcaatattgacgttctttaaaatgag       c.*3180

          .         .         .         .         .         .       g.9268
 agacactgtcaagtaatttaatccagagatcagccaccagatttgaaatgcttatgtatg       c.*3240

          .         .         .         .         .         .       g.9328
 tgtgtgtgtttggagttgtttttttcttttaaatcaccaaattttttttaagctactttt       c.*3300

          .         .         .         .         .         .       g.9388
 tatttgtgcctcctatttatcatgctgatgttagaagcagcagtcatccagccacagagg       c.*3360

          .         .         .         .         .         .       g.9448
 gagctaaagttaactaaccagaactgtagaaatcattatacatgcctttgacaacaaagg       c.*3420

          .         .         .         .         .         .       g.9508
 aagttcataagaaaagccatgtcggcttttcctctactagatacagattggaggtagatg       c.*3480

          .         .         .         .         .         .       g.9568
 aatatttgccaaatggaaaaaaagacaatgctagtcagaaaagacaaactgttttccagc       c.*3540

          .         .         .         .         .         .       g.9628
 ttctcaaaaagccatggagagtagaaaccaaaaccaacagggaaataaaaaaccttgaaa       c.*3600

          .         .         .         .         .         .       g.9688
 gtctcactttctagttgtcccatgcaggggttgaaatttgattccaagcggaaagtatat       c.*3660

          .         .         .         .         .         .       g.9748
 tatgttttttcaggccttcacatctagagagatggataacttccaatttgatttttcagg       c.*3720

          .         .         .         .         .         .       g.9808
 taatagagaaagctgctagtaattttaacccctgcctaaagaagacatatacttcatttg       c.*3780

          .         .         .         .         .         .       g.9868
 ggagcaaatacttattgccttgaaaagtagcactgtaatagcctatgataattagttgta       c.*3840

          .         .         .         .         .         .       g.9928
 gaataacctttatccctttcaaactatgcaaattattaaataagtgtaaattaggattca       c.*3900

          .         .         .         .         .         .       g.9988
 attaaagatagttgattatattgcaatcagatggcattcacaaacttaactggagcatat       c.*3960

          .         .         .         .         .         .       g.10048
 acaaatatattagtctaagttttgtatgctaacagaaagatataatttagctacctattc       c.*4020

          .         .         .         .         .         .       g.10108
 taaaaatggtgaatattattaatattgtataataggagtgggaagactgcctcctttttt       c.*4080

          .         .         .         .         .         .       g.10168
 gaagagagagattaaggatttttataattgtttttcatcaaattttaatatttttgtcaa       c.*4140

          .         .         .         .         .         .       g.10228
 atttttaggtatttaatttgtaaaacagtttgctttgtactggcatacagaaaatagggt       c.*4200

          .         .         .         .         .         .       g.10288
 attgattttaaactttttgaagccaagtgatcaagtacatttgtaataaaagtcaatgga       c.*4260

                                                                    g.10294
 tctata                                                             c.*4266

 (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 Purine-rich element binding protein A 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.