PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8) - coding DNA reference sequence

(used for variant description)

(last modified June 28, 2019)


This file was created to facilitate the description of sequence variants on transcript NM_006445.3 in the PRPF8 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009118.1, covering PRPF8 transcript NM_006445.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5054
       gaactcgggttgcgcacttcccggcgctgggaacgcggagcggacgcagtctgg       c.-61

 .         .         .         .         .         | 02             g.5311
 ccgccattgcgctgcggggaaagcggcctcttgtgtgagggcctgtggg | attctccggat    c.-1

          .         .         .         .         .         .       g.5371
 ATGGCCGGAGTGTTTCCTTATCGAGGGCCGGGTAACCCGGTGCCTGGCCCTCTAGCCCCG       c.60
 M  A  G  V  F  P  Y  R  G  P  G  N  P  V  P  G  P  L  A  P         p.20

          .         .         .         . | 03       .         .    g.6201
 CTACCGGACTACATGTCGGAGGAGAAGCTGCAGGAGAAAG | CTCGAAAATGGCAGCAATTG    c.120
 L  P  D  Y  M  S  E  E  K  L  Q  E  K  A |   R  K  W  Q  Q  L      p.40

          .         .         .         .         .         .       g.6261
 CAGGCCAAGCGCTATGCAGAAAAGCGGAAGTTTGGGTTTGTGGATGCCCAGAAGGAAGAC       c.180
 Q  A  K  R  Y  A  E  K  R  K  F  G  F  V  D  A  Q  K  E  D         p.60

          .         .         .         .         .         .       g.6321
 ATGCCCCCAGAACATGTCAGGAAGATCATTCGAGACCATGGAGACATGACCAACAGGAAG       c.240
 M  P  P  E  H  V  R  K  I  I  R  D  H  G  D  M  T  N  R  K         p.80

          .         .          | 04        .         .         .    g.7620
 TTCCGCCATGACAAAAGGGTTTACTTGGG | TGCCCTAAAGTACATGCCCCACGCAGTCCTC    c.300
 F  R  H  D  K  R  V  Y  L  G  |  A  L  K  Y  M  P  H  A  V  L      p.100

          .         .         .         .         .         .       g.7680
 AAACTCCTGGAGAACATGCCTATGCCTTGGGAGCAGATTCGGGATGTGCCTGTGCTGTAC       c.360
 K  L  L  E  N  M  P  M  P  W  E  Q  I  R  D  V  P  V  L  Y         p.120

          .         .         .         .         .         .       g.7740
 CACATCACTGGAGCCATTTCCTTCGTCAATGAGATTCCCTGGGTCATTGAACCTGTCTAC       c.420
 H  I  T  G  A  I  S  F  V  N  E  I  P  W  V  I  E  P  V  Y         p.140

          .     | 05   .         .         .         .         .    g.7890
 ATCTCCCAGTGGGG | GTCAATGTGGATTATGATGCGCCGAGAAAAAAGAGATAGGAGGCAT    c.480
 I  S  Q  W  G  |  S  M  W  I  M  M  R  R  E  K  R  D  R  R  H      p.160

          .         .         .         .         .         .       g.7950
 TTCAAGAGGATGCGTTTTCCCCCTTTTGATGATGAGGAGCCGCCCTTGGACTATGCTGAC       c.540
 F  K  R  M  R  F  P  P  F  D  D  E  E  P  P  L  D  Y  A  D         p.180

          .         .         .         .         .         .       g.8010
 AACATCCTAGATGTTGAGCCACTGGAGGCCATTCAGCTAGAGCTGGACCCTGAGGAGGAC       c.600
 N  I  L  D  V  E  P  L  E  A  I  Q  L  E  L  D  P  E  E  D         p.200

          .         .         .         .         .    | 06    .    g.8199
 GCCCCTGTGTTGGACTGGTTCTATGACCACCAGCCGTTGAGGGACAGCAGGAA | GTATGTA    c.660
 A  P  V  L  D  W  F  Y  D  H  Q  P  L  R  D  S  R  K  |  Y  V      p.220

          .         .         .         .         .         .       g.8259
 AATGGCTCCACTTACCAGCGCTGGCAGTTCACACTACCTATGATGTCGACTCTCTACCGC       c.720
 N  G  S  T  Y  Q  R  W  Q  F  T  L  P  M  M  S  T  L  Y  R         p.240

          .         .         .         .         .         .       g.8319
 CTGGCTAATCAGCTCCTGACAGACTTGGTGGATGACAACTACTTCTACCTGTTTGATTTG       c.780
 L  A  N  Q  L  L  T  D  L  V  D  D  N  Y  F  Y  L  F  D  L         p.260

          .         .         .         .         .         .       g.8379
 AAGGCCTTCTTTACGTCCAAGGCACTCAATATGGCCATTCCTGGAGGCCCCAAATTTGAA       c.840
 K  A  F  F  T  S  K  A  L  N  M  A  I  P  G  G  P  K  F  E         p.280

          .         .       | 07 .         .         .         .    g.8862
 CCTCTTGTTCGAGACATCAACCTACA | GGATGAAGACTGGAATGAATTCAATGATATTAAC    c.900
 P  L  V  R  D  I  N  L  Q  |  D  E  D  W  N  E  F  N  D  I  N      p.300

          .         .         .         .         .         .       g.8922
 AAGATTATCATCCGGCAGCCTATCCGCACTGAGTACAAGATTGCTTTTCCTTACTTGTAC       c.960
 K  I  I  I  R  Q  P  I  R  T  E  Y  K  I  A  F  P  Y  L  Y         p.320

          .         .         .   | 08     .         .         .    g.9079
 AACAATCTTCCACACCATGTCCACCTCACCTG | GTACCATACTCCCAATGTTGTATTCATC    c.1020
 N  N  L  P  H  H  V  H  L  T  W  |  Y  H  T  P  N  V  V  F  I      p.340

          .         .         .         .         .         .       g.9139
 AAAACTGAGGATCCTGACTTGCCAGCTTTCTACTTTGACCCTTTGATCAACCCAATCTCC       c.1080
 K  T  E  D  P  D  L  P  A  F  Y  F  D  P  L  I  N  P  I  S         p.360

          .         | 09         .         .         .         .    g.10125
 CATAGGCACTCAGTCAAG | AGCCAGGAACCATTGCCGGATGATGATGAGGAATTTGAGCTC    c.1140
 H  R  H  S  V  K   | S  Q  E  P  L  P  D  D  D  E  E  F  E  L      p.380

          .         .         .         .         .         .       g.10185
 CCGGAGTTTGTGGAGCCCTTCCTGAAGGACACACCCCTCTATACAGACAATACAGCCAAT       c.1200
 P  E  F  V  E  P  F  L  K  D  T  P  L  Y  T  D  N  T  A  N         p.400

          .         .         .         .         .         .       g.10245
 GGCATTGCCCTGCTCTGGGCCCCGCGGCCCTTCAACCTACGCTCTGGTCGCACCCGTCGG       c.1260
 G  I  A  L  L  W  A  P  R  P  F  N  L  R  S  G  R  T  R  R         p.420

          .         .          | 10        .         .         .    g.10503
 GCCCTGGACATACCCCTTGTCAAGAACTG | GTATCGGGAGCATTGTCCTGCCGGGCAGCCT    c.1320
 A  L  D  I  P  L  V  K  N  W  |  Y  R  E  H  C  P  A  G  Q  P      p.440

          .         .         .         .         .         .       g.10563
 GTGAAAGTGAGGGTCTCCTACCAGAAGCTGCTTAAGTACTATGTGCTGAATGCCCTGAAG       c.1380
 V  K  V  R  V  S  Y  Q  K  L  L  K  Y  Y  V  L  N  A  L  K         p.460

          .         .          | 11        .         .         .    g.10707
 CATCGGCCCCCTAAGGCTCAAAAGAAGAG | GTATTTGTTCCGCTCCTTCAAAGCCACCAAA    c.1440
 H  R  P  P  K  A  Q  K  K  R  |  Y  L  F  R  S  F  K  A  T  K      p.480

          .         .         .         .         .         .       g.10767
 TTCTTTCAGTCCACAAAGCTGGACTGGGTGGAGGTTGGGCTCCAGGTTTGCCGCCAGGGC       c.1500
 F  F  Q  S  T  K  L  D  W  V  E  V  G  L  Q  V  C  R  Q  G         p.500

          .         .         .         .         .         .       g.10827
 TACAACATGCTCAACCTTCTCATTCACCGCAAAAACCTCAACTACCTGCACCTGGACTAC       c.1560
 Y  N  M  L  N  L  L  I  H  R  K  N  L  N  Y  L  H  L  D  Y         p.520

          .         .         .          | 12        .         .    g.11022
 AACTTCAACCTCAAGCCTGTGAAAACGCTCACCACCAAG | GAAAGAAAGAAATCTCGTTTT    c.1620
 N  F  N  L  K  P  V  K  T  L  T  T  K   | E  R  K  K  S  R  F      p.540

          .         .         .         .         .         .       g.11082
 GGGAATGCTTTCCACCTGTGTCGGGAAGTTCTGCGTTTGACTAAGCTGGTGGTGGATAGT       c.1680
 G  N  A  F  H  L  C  R  E  V  L  R  L  T  K  L  V  V  D  S         p.560

          .         .         .          | 13        .         .    g.11251
 CACGTGCAGTATCGGCTGGGCAATGTGGATGCCTTCCAG | CTGGCAGATGGATTGCAGTAT    c.1740
 H  V  Q  Y  R  L  G  N  V  D  A  F  Q   | L  A  D  G  L  Q  Y      p.580

          .         .         .         .         .         .       g.11311
 ATATTTGCCCATGTTGGGCAGTTGACGGGCATGTATCGATACAAATACAAGCTGATGCGA       c.1800
 I  F  A  H  V  G  Q  L  T  G  M  Y  R  Y  K  Y  K  L  M  R         p.600

          .         .         .         .         .     | 14   .    g.12194
 CAGATTCGCATGTGCAAGGACCTGAAGCATCTCATCTATTATCGTTTCAACACG | GGCCCT    c.1860
 Q  I  R  M  C  K  D  L  K  H  L  I  Y  Y  R  F  N  T   | G  P      p.620

          .         .         .         .         .         .       g.12254
 GTAGGGAAGGGTCCTGGCTGTGGCTTCTGGGCTGCCGGTTGGCGAGTCTGGCTCTTTTTC       c.1920
 V  G  K  G  P  G  C  G  F  W  A  A  G  W  R  V  W  L  F  F         p.640

          .         .         .         .         .         .       g.12314
 ATGCGTGGCATTACCCCTTTATTAGAGCGATGGCTTGGCAACCTCCTGGCCCGGCAGTTT       c.1980
 M  R  G  I  T  P  L  L  E  R  W  L  G  N  L  L  A  R  Q  F         p.660

      | 15   .         .         .         .         .         .    g.12766
 GAAG | GTCGACACTCAAAGGGGGTGGCAAAGACAGTAACAAAGCAGCGAGTGGAGTCACAT    c.2040
 E  G |   R  H  S  K  G  V  A  K  T  V  T  K  Q  R  V  E  S  H      p.680

          .         .         .         .         .         .       g.12826
 TTTGACCTTGAGCTGCGGGCAGCTGTGATGCATGATATTCTGGACATGATGCCTGAGGGG       c.2100
 F  D  L  E  L  R  A  A  V  M  H  D  I  L  D  M  M  P  E  G         p.700

          .         .         .         .         .         .       g.12886
 ATCAAGCAGAACAAGGCCCGGACAATCCTGCAGCACCTCAGTGAAGCCTGGCGCTGCTGG       c.2160
 I  K  Q  N  K  A  R  T  I  L  Q  H  L  S  E  A  W  R  C  W         p.720

          .         .  | 16      .         .         .         .    g.13210
 AAAGCCAACATTCCCTGGAAG | GTCCCTGGGCTGCCGACGCCCATAGAGAATATGATCCTT    c.2220
 K  A  N  I  P  W  K   | V  P  G  L  P  T  P  I  E  N  M  I  L      p.740

          .         .         .         .         .         .       g.13270
 CGATACGTGAAGGCCAAGGCTGACTGGTGGACCAACACTGCCCACTACAACCGAGAACGG       c.2280
 R  Y  V  K  A  K  A  D  W  W  T  N  T  A  H  Y  N  R  E  R         p.760

          .         .         .         .         .         .       g.13330
 ATCCGCCGAGGGGCCACTGTGGACAAGACTGTTTGTAAAAAGAATCTGGGCCGCCTCACC       c.2340
 I  R  R  G  A  T  V  D  K  T  V  C  K  K  N  L  G  R  L  T         p.780

          .         .         .         .         | 17         .    g.13524
 CGGCTCTATCTGAAGGCAGAACAGGAGCGGCAGCACAACTACCTGAAG | GACGGGCCTTAC    c.2400
 R  L  Y  L  K  A  E  Q  E  R  Q  H  N  Y  L  K   | D  G  P  Y      p.800

          .         .         .         .         .         .       g.13584
 ATCACAGCGGAGGAAGCAGTGGCAGTATATACCACCACAGTGCATTGGTTGGAAAGCCGC       c.2460
 I  T  A  E  E  A  V  A  V  Y  T  T  T  V  H  W  L  E  S  R         p.820

          .         .         .         .         .         .       g.13644
 AGGTTTTCACCCATCCCATTCCCCCCACTCTCCTATAAGCATGACACCAAGTTGCTCATC       c.2520
 R  F  S  P  I  P  F  P  P  L  S  Y  K  H  D  T  K  L  L  I         p.840

          .         .         .   | 18     .         .         .    g.13856
 TTGGCATTGGAGCGGCTCAAGGAAGCTTATAG | TGTGAAGTCTCGGTTGAACCAGTCTCAG    c.2580
 L  A  L  E  R  L  K  E  A  Y  S  |  V  K  S  R  L  N  Q  S  Q      p.860

          .         .         .         .         .         .       g.13916
 AGGGAGGAGCTAGGTCTGATCGAGCAGGCCTACGATAACCCCCACGAGGCGCTGTCCCGC       c.2640
 R  E  E  L  G  L  I  E  Q  A  Y  D  N  P  H  E  A  L  S  R         p.880

          .         .         .          | 19        .         .    g.14091
 ATCAAGCGTCACCTCCTCACACAGAGAGCCTTCAAAGAG | GTGGGCATTGAGTTCATGGAT    c.2700
 I  K  R  H  L  L  T  Q  R  A  F  K  E   | V  G  I  E  F  M  D      p.900

          .         .         .         .         .         .       g.14151
 CTGTATAGCCACCTCGTTCCAGTATATGATGTTGAGCCCCTGGAGAAGATAACTGATGCT       c.2760
 L  Y  S  H  L  V  P  V  Y  D  V  E  P  L  E  K  I  T  D  A         p.920

          .         .         .         .         .         .       g.14211
 TACCTGGACCAGTACCTGTGGTATGAAGCCGACAAGCGCCGCCTGTTCCCACCCTGGATT       c.2820
 Y  L  D  Q  Y  L  W  Y  E  A  D  K  R  R  L  F  P  P  W  I         p.940

          .         .         .         .         .   | 20     .    g.14551
 AAGCCTGCAGACACAGAACCACCTCCGCTGCTTGTTTACAAGTGGTGTCAAG | GCATCAAT    c.2880
 K  P  A  D  T  E  P  P  P  L  L  V  Y  K  W  C  Q  G |   I  N      p.960

          .         .         .         .         .         .       g.14611
 AACCTGCAGGACGTGTGGGAGACGAGTGAAGGCGAGTGCAATGTCATGCTGGAATCCCGC       c.2940
 N  L  Q  D  V  W  E  T  S  E  G  E  C  N  V  M  L  E  S  R         p.980

          .         .         .         .         .         .       g.14671
 TTTGAGAAGATGTATGAGAAGATCGACTTGACTCTGCTCAACAGGCTGCTGCGCCTCATC       c.3000
 F  E  K  M  Y  E  K  I  D  L  T  L  L  N  R  L  L  R  L  I         p.1000

          .         .         .         .         .         .       g.14731
 GTGGACCACAACATAGCCGACTACATGACAGCCAAGAACAACGTCGTCATCAACTATAAG       c.3060
 V  D  H  N  I  A  D  Y  M  T  A  K  N  N  V  V  I  N  Y  K         p.1020

  | 21       .         .         .         .         .         .    g.15262
  | GACATGAACCATACGAATTCATATGGGATCATCAGAGGCCTGCAGTTTGCCTCATTCATC    c.3120
  | D  M  N  H  T  N  S  Y  G  I  I  R  G  L  Q  F  A  S  F  I      p.1040

          .         .         .         .         .         .       g.15322
 GTGCAGTATTATGGCCTGGTGATGGATTTGCTTGTATTGGGATTGCACCGGGCCAGTGAG       c.3180
 V  Q  Y  Y  G  L  V  M  D  L  L  V  L  G  L  H  R  A  S  E         p.1060

          .         .         .         .         .         .       g.15382
 ATGGCTGGGCCCCCTCAGATGCCAAATGACTTTCTCAGTTTCCAGGACATAGCCACTGAG       c.3240
 M  A  G  P  P  Q  M  P  N  D  F  L  S  F  Q  D  I  A  T  E         p.1080

          .         .         .         .         .          | 22    g.15991
 GCTGCCCACCCCATCCGTCTCTTCTGCAGATACATTGATCGCATCCATATTTTTTTCAG | G    c.3300
 A  A  H  P  I  R  L  F  C  R  Y  I  D  R  I  H  I  F  F  R  |      p.1100

          .         .         .         .         .         .       g.16051
 TTCACAGCAGATGAGGCTCGGGACCTGATTCAACGTTACCTGACAGAGCACCCTGACCCC       c.3360
 F  T  A  D  E  A  R  D  L  I  Q  R  Y  L  T  E  H  P  D  P         p.1120

          .         .         .         .         .         .       g.16111
 AATAATGAAAACATCGTTGGCTATAATAACAAGAAGTGCTGGCCCCGAGATGCCCGCATG       c.3420
 N  N  E  N  I  V  G  Y  N  N  K  K  C  W  P  R  D  A  R  M         p.1140

          .         .       | 23 .         .         .         .    g.16349
 CGCCTCATGAAACATGATGTTAACTT | AGGCCGGGCGGTATTCTGGGACATCAAGAACCGC    c.3480
 R  L  M  K  H  D  V  N  L  |  G  R  A  V  F  W  D  I  K  N  R      p.1160

          .         .         .         .         .         .       g.16409
 TTGCCACGGTCAGTGACTACAGTTCAGTGGGAGAACAGCTTCGTGTCTGTGTACAGTAAG       c.3540
 L  P  R  S  V  T  T  V  Q  W  E  N  S  F  V  S  V  Y  S  K         p.1180

          .         .         .         .         .         .       g.16469
 GACAACCCCAACCTGCTGTTCAACATGTGTGGCTTCGAGTGCCGCATCCTGCCTAAGTGC       c.3600
 D  N  P  N  L  L  F  N  M  C  G  F  E  C  R  I  L  P  K  C         p.1200

          .         .         .         .         .        | 24.    g.16688
 CGCACCAGCTATGAGGAGTTCACCCACAAGGACGGGGTCTGGAACCTGCAGAATGAG | GTT    c.3660
 R  T  S  Y  E  E  F  T  H  K  D  G  V  W  N  L  Q  N  E   | V      p.1220

          .         .         .         .         .         .       g.16748
 ACTAAGGAGCGCACAGCTCAGTGTTTCCTGCGTGTGGACGATGAGTCAATGCAGCGCTTC       c.3720
 T  K  E  R  T  A  Q  C  F  L  R  V  D  D  E  S  M  Q  R  F         p.1240

          .         .         .         .         .     | 25   .    g.27735
 CACAACCGCGTGCGTCAGATTCTCATGGCCTCTGGGTCCACCACCTTCACCAAG | ATTGTG    c.3780
 H  N  R  V  R  Q  I  L  M  A  S  G  S  T  T  F  T  K   | I  V      p.1260

          .         .         .         .         .         .       g.27795
 AATAAGTGGAATACAGCTCTCATTGGCCTTATGACATACTTTCGGGAGGCTGTGGTGAAC       c.3840
 N  K  W  N  T  A  L  I  G  L  M  T  Y  F  R  E  A  V  V  N         p.1280

          .         .         .         .         .         .       g.27855
 ACCCAAGAGCTCTTGGACTTACTGGTGAAGTGTGAGAACAAAATCCAGACACGTATCAAG       c.3900
 T  Q  E  L  L  D  L  L  V  K  C  E  N  K  I  Q  T  R  I  K         p.1300

          .         .         .         .         .         .       g.27915
 ATTGGACTCAACTCCAAGATGCCAAGTCGGTTCCCCCCGGTTGTGTTCTACACCCCTAAG       c.3960
 I  G  L  N  S  K  M  P  S  R  F  P  P  V  V  F  Y  T  P  K         p.1320

          .         .         .         .         .         .       g.27975
 GAGTTGGGTGGACTCGGCATGCTCTCAATGGGCCATGTGCTCATCCCCCAATCCGACCTC       c.4020
 E  L  G  G  L  G  M  L  S  M  G  H  V  L  I  P  Q  S  D  L         p.1340

    | 26     .         .         .         .         .         .    g.28150
 AG | GTGGTCCAAACAGACAGATGTAGGTATCACACACTTTCGTTCAGGAATGAGCCATGAA    c.4080
 R  |  W  S  K  Q  T  D  V  G  I  T  H  F  R  S  G  M  S  H  E      p.1360

          .         .         .         .         .         .       g.28210
 GAAGACCAGCTCATTCCCAACTTGTACCGCTACATACAGCCATGGGAGAGCGAGTTCATT       c.4140
 E  D  Q  L  I  P  N  L  Y  R  Y  I  Q  P  W  E  S  E  F  I         p.1380

          .         .         .         .         .         .       g.28270
 GATTCTCAGCGGGTCTGGGCTGAGTACGCACTCAAGAGGCAAGAGGCCATTGCTCAGAAC       c.4200
 D  S  Q  R  V  W  A  E  Y  A  L  K  R  Q  E  A  I  A  Q  N         p.1400

    | 27     .         .         .         .         .         .    g.28534
 AG | ACGCCTGACTTTAGAAGACCTAGAAGATTCATGGGATCGTGGCATTCCTCGAATCAAT    c.4260
 R  |  R  L  T  L  E  D  L  E  D  S  W  D  R  G  I  P  R  I  N      p.1420

          .         .         .         .         .         .       g.28594
 ACCCTCTTCCAGAAGGACCGGCACACACTGGCTTATGATAAGGGCTGGCGTGTCAGAACT       c.4320
 T  L  F  Q  K  D  R  H  T  L  A  Y  D  K  G  W  R  V  R  T         p.1440

          .         | 28         .         .         .         .    g.28762
 GACTTTAAGCAGTATCAG | GTTTTGAAGCAGAATCCGTTCTGGTGGACACACCAGCGGCAT    c.4380
 D  F  K  Q  Y  Q   | V  L  K  Q  N  P  F  W  W  T  H  Q  R  H      p.1460

          .         .         .         .         .         .       g.28822
 GATGGGAAGCTCTGGAACCTGAACAACTACCGTACAGACATGATCCAGGCCCTGGGCGGT       c.4440
 D  G  K  L  W  N  L  N  N  Y  R  T  D  M  I  Q  A  L  G  G         p.1480

          .         .         .         .         .         .       g.28882
 GTGGAAGGCATTCTGGAACACACACTCTTTAAGGGCACTTACTTCCCTACCTGGGAGGGG       c.4500
 V  E  G  I  L  E  H  T  L  F  K  G  T  Y  F  P  T  W  E  G         p.1500

          | 29         .         .         .         .         .    g.29107
 CTTTTCTG | GGAGAAGGCCAGTGGCTTTGAGGAATCTATGAAGTGGAAGAAGCTAACTAAT    c.4560
 L  F  W  |  E  K  A  S  G  F  E  E  S  M  K  W  K  K  L  T  N      p.1520

          .         .         .         .         .         .       g.29167
 GCTCAGCGATCAGGACTGAACCAGATTCCCAATCGTAGATTCACCCTCTGGTGGTCCCCG       c.4620
 A  Q  R  S  G  L  N  Q  I  P  N  R  R  F  T  L  W  W  S  P         p.1540

          .         | 30         .         .         .         .    g.29346
 ACCATTAATCGAGCCAAT | GTATATGTAGGCTTTCAGGTGCAGCTAGACCTGACGGGTATC    c.4680
 T  I  N  R  A  N   | V  Y  V  G  F  Q  V  Q  L  D  L  T  G  I      p.1560

          .         .         .         .         .         .       g.29406
 TTCATGCACGGCAAGATCCCCACGCTGAAGATCTCTCTCATCCAGATCTTCCGAGCTCAC       c.4740
 F  M  H  G  K  I  P  T  L  K  I  S  L  I  Q  I  F  R  A  H         p.1580

          .         .         .         .      | 31  .         .    g.29896
 TTGTGGCAGAAGATCCATGAGAGCATTGTTATGGACTTATGTCAG | GTGTTTGACCAGGAA    c.4800
 L  W  Q  K  I  H  E  S  I  V  M  D  L  C  Q   | V  F  D  Q  E      p.1600

          .         .         .         .         .         .       g.29956
 CTTGATGCACTGGAAATTGAGACAGTACAAAAGGAGACAATCCATCCCCGAAAGTCATAT       c.4860
 L  D  A  L  E  I  E  T  V  Q  K  E  T  I  H  P  R  K  S  Y         p.1620

          .         .         .         .         .         .       g.30016
 AAGATGAACTCTTCCTGTGCAGATATCCTGCTCTTTGCCTCCTATAAGTGGAATGTCTCC       c.4920
 K  M  N  S  S  C  A  D  I  L  L  F  A  S  Y  K  W  N  V  S         p.1640

          .         .       | 32 .         .         .         .    g.30368
 CGGCCCTCATTGCTGGCTGACTCCAA | GGATGTGATGGACAGCACCACCACCCAGAAATAC    c.4980
 R  P  S  L  L  A  D  S  K  |  D  V  M  D  S  T  T  T  Q  K  Y      p.1660

          .         .         .         .         .         .       g.30428
 TGGATTGACATCCAGTTGCGCTGGGGGGACTATGATTCCCACGACATTGAGCGCTACGCC       c.5040
 W  I  D  I  Q  L  R  W  G  D  Y  D  S  H  D  I  E  R  Y  A         p.1680

          .         .         .         .         .         .       g.30488
 CGGGCCAAGTTCCTGGACTACACCACCGACAACATGAGTATCTACCCTTCGCCCACAGGT       c.5100
 R  A  K  F  L  D  Y  T  T  D  N  M  S  I  Y  P  S  P  T  G         p.1700

          .         .         .         | 33         .         .    g.31141
 GTACTCATCGCCATTGACCTGGCCTATAACTTGCACAG | TGCCTATGGAAACTGGTTCCCA    c.5160
 V  L  I  A  I  D  L  A  Y  N  L  H  S  |  A  Y  G  N  W  F  P      p.1720

          .         .         .         .         .         .       g.31201
 GGCAGCAAGCCTCTCATACAACAGGCCATGGCCAAGATCATGAAGGCAAACCCTGCCCTG       c.5220
 G  S  K  P  L  I  Q  Q  A  M  A  K  I  M  K  A  N  P  A  L         p.1740

          .         .         .         .         .         .       g.31261
 TATGTGTTACGTGAACGGATCCGCAAGGGGCTACAGCTCTATTCATCTGAACCCACTGAG       c.5280
 Y  V  L  R  E  R  I  R  K  G  L  Q  L  Y  S  S  E  P  T  E         p.1760

          .         .         .         .         .         .       g.31321
 CCTTATTTGTCTTCTCAGAACTATGGTGAGCTCTTCTCCAACCAGATTATCTGGTTTGTG       c.5340
 P  Y  L  S  S  Q  N  Y  G  E  L  F  S  N  Q  I  I  W  F  V         p.1780

          .         .         .       | 34 .         .         .    g.31525
 GATGACACCAACGTCTACAGAGTGACTATTCACAAG | ACCTTTGAAGGGAACTTGACAACC    c.5400
 D  D  T  N  V  Y  R  V  T  I  H  K   | T  F  E  G  N  L  T  T      p.1800

          .         .         .         .         .         .       g.31585
 AAGCCCATCAACGGAGCCATCTTCATCTTCAACCCACGCACAGGGCAGCTGTTCCTCAAG       c.5460
 K  P  I  N  G  A  I  F  I  F  N  P  R  T  G  Q  L  F  L  K         p.1820

          .         .         .         .      | 35  .         .    g.33136
 ATAATCCACACGTCCGTGTGGGCGGGACAGAAGCGTTTGGGGCAG | TTGGCTAAGTGGAAG    c.5520
 I  I  H  T  S  V  W  A  G  Q  K  R  L  G  Q   | L  A  K  W  K      p.1840

          .         .         .         .         .         .       g.33196
 ACAGCTGAGGAGGTGGCCGCCCTGATCCGATCTCTGCCTGTGGAGGAGCAGCCCAAGCAG       c.5580
 T  A  E  E  V  A  A  L  I  R  S  L  P  V  E  E  Q  P  K  Q         p.1860

          .         .         .          | 36        .         .    g.33338
 ATCATTGTCACCAGGAAGGGCATGCTGGACCCACTGGAG | GTGCACTTACTGGACTTCCCC    c.5640
 I  I  V  T  R  K  G  M  L  D  P  L  E   | V  H  L  L  D  F  P      p.1880

          .         .         .         .         .         .       g.33398
 AATATTGTCATCAAAGGATCGGAGCTCCAACTCCCTTTCCAGGCGTGTCTCAAGGTGGAA       c.5700
 N  I  V  I  K  G  S  E  L  Q  L  P  F  Q  A  C  L  K  V  E         p.1900

          .         .         .         .         .         .       g.33458
 AAATTCGGGGATCTCATCCTTAAAGCCACTGAGCCCCAGATGGTTCTCTTCAACCTCTAT       c.5760
 K  F  G  D  L  I  L  K  A  T  E  P  Q  M  V  L  F  N  L  Y         p.1920

          .         .         .    | 37    .         .         .    g.34366
 GACGACTGGCTCAAGACTATTTCATCTTACACG | GCCTTCTCCCGTCTCATCCTGATTCTG    c.5820
 D  D  W  L  K  T  I  S  S  Y  T   | A  F  S  R  L  I  L  I  L      p.1940

          .         .         .         .         .         .       g.34426
 CGTGCCCTACATGTGAACAACGATCGGGCAAAAGTGATCCTGAAGCCAGACAAGACTACT       c.5880
 R  A  L  H  V  N  N  D  R  A  K  V  I  L  K  P  D  K  T  T         p.1960

          .         .         .         .         .         .       g.34486
 ATTACAGAACCACACCACATCTGGCCCACTCTGACTGACGAAGAATGGATCAAGGTCGAG       c.5940
 I  T  E  P  H  H  I  W  P  T  L  T  D  E  E  W  I  K  V  E         p.1980

          .         .         .         .        | 38.         .    g.35879
 GTGCAGCTCAAGGATCTGATCTTGGCTGACTACGGCAAGAAAAACAA | TGTGAACGTGGCA    c.6000
 V  Q  L  K  D  L  I  L  A  D  Y  G  K  K  N  N  |  V  N  V  A      p.2000

          .         .         .         .         .         .       g.35939
 TCACTGACACAATCAGAAATTCGAGACATCATCCTGGGTATGGAGATCTCGGCACCGTCA       c.6060
 S  L  T  Q  S  E  I  R  D  I  I  L  G  M  E  I  S  A  P  S         p.2020

          .         .         .         .         .         .       g.35999
 CAGCAGCGGCAGCAGATCGCTGAGATCGAGAAGCAGACCAAGGAACAATCGCAGCTGACG       c.6120
 Q  Q  R  Q  Q  I  A  E  I  E  K  Q  T  K  E  Q  S  Q  L  T         p.2040

          .         .         .         .         .         .       g.36059
 GCAACACAGACTCGCACTGTCAACAAGCATGGCGATGAGATCATCACCTCCACCACCAGC       c.6180
 A  T  Q  T  R  T  V  N  K  H  G  D  E  I  I  T  S  T  T  S         p.2060

          .         .         .         .        | 39.         .    g.36212
 AACTATGAGACCCAGACTTTCTCATCCAAGACTGAGTGGAGGGTCAG | GGCCATCTCTGCT    c.6240
 N  Y  E  T  Q  T  F  S  S  K  T  E  W  R  V  R  |  A  I  S  A      p.2080

          .         .         .         .         .         .       g.36272
 GCCAACCTGCACCTAAGGACCAATCACATCTATGTTTCATCTGACGACATCAAGGAGACT       c.6300
 A  N  L  H  L  R  T  N  H  I  Y  V  S  S  D  D  I  K  E  T         p.2100

          .         .         .         .         .         .       g.36332
 GGCTACACCTACATCCTTCCCAAGAATGTGCTTAAGAAGTTCATCTGCATATCTGACCTT       c.6360
 G  Y  T  Y  I  L  P  K  N  V  L  K  K  F  I  C  I  S  D  L         p.2120

           | 40        .         .         .         .         .    g.38145
 CGGGCCCAA | ATTGCAGGATACCTATATGGGGTGAGCCCACCAGATAACCCCCAGGTGAAG    c.6420
 R  A  Q   | I  A  G  Y  L  Y  G  V  S  P  P  D  N  P  Q  V  K      p.2140

          .         .         .         .         .         .       g.38205
 GAGATCCGCTGCATTGTGATGGTGCCGCAGTGGGGCACTCACCAGACCGTGCACCTGCCT       c.6480
 E  I  R  C  I  V  M  V  P  Q  W  G  T  H  Q  T  V  H  L  P         p.2160

          .         .         . | 41       .         .         .    g.38359
 GGCCAGCTGCCCCAGCATGAGTACCTCAAG | GAGATGGAACCCTTAGGTTGGATCCACACT    c.6540
 G  Q  L  P  Q  H  E  Y  L  K   | E  M  E  P  L  G  W  I  H  T      p.2180

          .         .         .         .         .         .       g.38419
 CAGCCCAATGAGTCCCCGCAGTTATCACCCCAGGATGTCACCACCCATGCCAAGATCATG       c.6600
 Q  P  N  E  S  P  Q  L  S  P  Q  D  V  T  T  H  A  K  I  M         p.2200

          .         .         .         .         . | 42       .    g.38582
 GCTGACAACCCATCTTGGGATGGCGAGAAGACCATTATCATCACATGCAG | CTTCACGCCA    c.6660
 A  D  N  P  S  W  D  G  E  K  T  I  I  I  T  C  S  |  F  T  P      p.2220

          .         .         .         .         .         .       g.38642
 GGCTCCTGTACACTGACGGCCTACAAGCTGACCCCCAGTGGCTACGAATGGGGCCGCCAG       c.6720
 G  S  C  T  L  T  A  Y  K  L  T  P  S  G  Y  E  W  G  R  Q         p.2240

          .         .         .         .         .         .       g.38702
 AACACAGACAAGGGCAACAACCCCAAGGGCTACCTGCCTTCACACTATGAGAGGGTGCAG       c.6780
 N  T  D  K  G  N  N  P  K  G  Y  L  P  S  H  Y  E  R  V  Q         p.2260

          .         .         .         .         .         .       g.38762
 ATGCTGCTGTCGGACCGTTTCCTTGGCTTCTTCATGGTCCCTGCCCAGTCCTCGTGGAAC       c.6840
 M  L  L  S  D  R  F  L  G  F  F  M  V  P  A  Q  S  S  W  N         p.2280

          .    | 43    .         .         .         .         .    g.38973
 TACAACTTCATGG | GTGTTCGGCATGACCCCAACATGAAATATGAGCTACAGCTGGCGAAC    c.6900
 Y  N  F  M  G |   V  R  H  D  P  N  M  K  Y  E  L  Q  L  A  N      p.2300

          .         .         .         .         .         .       g.39033
 CCCAAAGAGTTCTACCACGAGGTGCACAGGCCCTCTCACTTCCTCAACTTTGCTCTCCTG       c.6960
 P  K  E  F  Y  H  E  V  H  R  P  S  H  F  L  N  F  A  L  L         p.2320

          .         .         .         .                           g.39081
 CAGGAGGGGGAGGTTTACTCTGCGGATCGGGAGGACCTGTATGCCTGA                   c.7008
 Q  E  G  E  V  Y  S  A  D  R  E  D  L  Y  A  X                     p.2335

          .         .         .         .         .         .       g.39141
 ccgtttccctgcctcctgcttcagcctcccgaggccgaagcctcagcccctccagacagg       c.*60

          .         .         .         .         .         .       g.39201
 ccgctgacattcagcagtttggcctctttccctctgtctgtgcttgtgttgttgacctcc       c.*120

          .         .         .         .         .                 g.39254
 tgatggcttgtcatcctgaataaaatataataataaattttgtataaatagga              c.*173

 (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 10th nucleotide is indicated by a "." above the sequence. The PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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.

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