AT rich interactive domain 1B (SWI1-like) (ARID1B) - coding DNA reference sequence

(used for variant description)

(last modified June 23, 2015)


This file was created to facilitate the description of sequence variants on transcript NM_020732.3 in the ARID1B gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_032093.1, covering ARID1B transcript NM_020732.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
          .         .         .         .         .         .       g.60
 ATGGCCCATAACGCGGGCGCCGCGGCCGCCGCCGGCACCCACAGCGCCAAGAGCGGCGGC       c.60
 M  A  H  N  A  G  A  A  A  A  A  G  T  H  S  A  K  S  G  G         p.20

          .         .         .         .         .         .       g.120
 TCCGAGGCGGCTCTCAAGGAGGGTGGAAGCGCCGCCGCGCTGTCCTCCTCCTCCTCCTCC       c.120
 S  E  A  A  L  K  E  G  G  S  A  A  A  L  S  S  S  S  S  S         p.40

          .         .         .         .         .         .       g.180
 TCCGCGGCGGCAGCGGCGGCATCCTCTTCCTCCTCGTCGGGCCCGGGCTCGGCCATGGAG       c.180
 S  A  A  A  A  A  A  S  S  S  S  S  S  G  P  G  S  A  M  E         p.60

          .         .         .         .         .         .       g.240
 ACGGGGCTGCTCCCCAACCACAAACTGAAAACCGTTGGCGAAGCCCCCGCCGCGCCGCCC       c.240
 T  G  L  L  P  N  H  K  L  K  T  V  G  E  A  P  A  A  P  P         p.80

          .         .         .         .         .         .       g.300
 CACCAGCAGCACCACCACCACCACCATGCCCACCACCACCACCACCATGCCCACCACCTC       c.300
 H  Q  Q  H  H  H  H  H  H  A  H  H  H  H  H  H  A  H  H  L         p.100

          .         .         .         .         .         .       g.360
 CACCACCACCACGCACTACAGCAGCAGCTAAACCAGTTCCAGCAGCAGCAGCAGCAGCAG       c.360
 H  H  H  H  A  L  Q  Q  Q  L  N  Q  F  Q  Q  Q  Q  Q  Q  Q         p.120

          .         .         .         .         .         .       g.420
 CAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACATCCCATTTCCAACAACAACAGCTTG       c.420
 Q  Q  Q  Q  Q  Q  Q  Q  Q  Q  Q  H  P  I  S  N  N  N  S  L         p.140

          .         .         .         .         .         .       g.480
 GGCGGCGCGGGCGGCGGCGCGCCTCAGCCCGGCCCCGACATGGAGCAGCCGCAACATGGA       c.480
 G  G  A  G  G  G  A  P  Q  P  G  P  D  M  E  Q  P  Q  H  G         p.160

          .         .         .         .         .         .       g.540
 GGCGCCAAGGACAGTGCTGCGGGCGGCCAGGCCGACCCCCCGGGCCCGCCGCTGCTGAGC       c.540
 G  A  K  D  S  A  A  G  G  Q  A  D  P  P  G  P  P  L  L  S         p.180

          .         .         .         .         .         .       g.600
 AAGCCGGGCGACGAGGACGACGCGCCGCCCAAGATGGGGGAGCCGGCGGGCGGCCGCTAC       c.600
 K  P  G  D  E  D  D  A  P  P  K  M  G  E  P  A  G  G  R  Y         p.200

          .         .         .         .         .         .       g.660
 GAGCACCCGGGCTTGGGCGCCCTGGGCACGCAGCAGCCGCCGGTCGCCGTGCCCGGGGGC       c.660
 E  H  P  G  L  G  A  L  G  T  Q  Q  P  P  V  A  V  P  G  G         p.220

          .         .         .         .         .         .       g.720
 GGCGGCGGCCCGGCGGCCGTCCCGGAGTTTAATAATTACTATGGCAGCGCTGCCCCTGCG       c.720
 G  G  G  P  A  A  V  P  E  F  N  N  Y  Y  G  S  A  A  P  A         p.240

          .         .         .         .         .         .       g.780
 AGCGGCGGCCCCGGCGGCCGCGCTGGGCCTTGCTTTGATCAACATGGCGGACAACAAAGC       c.780
 S  G  G  P  G  G  R  A  G  P  C  F  D  Q  H  G  G  Q  Q  S         p.260

          .         .         .         .         .         .       g.840
 CCCGGGATGGGGATGATGCACTCCGCCTCCGCCGCCGCCGCCGGGGCCCCCGGCAGCATG       c.840
 P  G  M  G  M  M  H  S  A  S  A  A  A  A  G  A  P  G  S  M         p.280

          .         .         .         .         .         .       g.900
 GACCCCCTGCAGAACTCCCACGAAGGGTACCCCAACAGCCAGTGCAACCATTATCCGGGC       c.900
 D  P  L  Q  N  S  H  E  G  Y  P  N  S  Q  C  N  H  Y  P  G         p.300

          .         .         .         .         .         .       g.960
 TACAGCCGGCCCGGCGCGGGCGGCGGCGGCGGCGGCGGCGGCGGAGGAGGAGGAGGCAGC       c.960
 Y  S  R  P  G  A  G  G  G  G  G  G  G  G  G  G  G  G  G  S         p.320

          .         .         .         .         .         .       g.1020
 GGAGGAGGAGGAGGAGGAGGAGGAGCAGGAGCAGGAGGAGCAGGAGCGGGAGCTGTGGCG       c.1020
 G  G  G  G  G  G  G  G  A  G  A  G  G  A  G  A  G  A  V  A         p.340

          .         .         .         .         .         .       g.1080
 GCGGCGGCCGCGGCGGCGGCGGCAGCAGCAGGAGGCGGCGGCGGCGGCGGCTATGGGGGC       c.1080
 A  A  A  A  A  A  A  A  A  A  G  G  G  G  G  G  G  Y  G  G         p.360

          .         .         .         .         .         .       g.1140
 TCGTCCGCGGGGTACGGGGTGCTGAGCTCCCCCCGGCAGCAGGGCGGCGGCATGATGATG       c.1140
 S  S  A  G  Y  G  V  L  S  S  P  R  Q  Q  G  G  G  M  M  M         p.380

          .         .         .         .         .         .       g.1200
 GGCCCCGGGGGCGGCGGGGCCGCGAGCCTCAGCAAGGCGGCCGCCGGCTCGGCGGCGGGG       c.1200
 G  P  G  G  G  G  A  A  S  L  S  K  A  A  A  G  S  A  A  G         p.400

          .         .         .         .         .         .       g.1260
 GGCTTCCAGCGCTTCGCCGGCCAGAACCAGCACCCGTCGGGGGCCACCCCGACCCTCAAT       c.1260
 G  F  Q  R  F  A  G  Q  N  Q  H  P  S  G  A  T  P  T  L  N         p.420

          .         .         .         .         .         .       g.1320
 CAGCTGCTCACCTCGCCCAGCCCCATGATGCGGAGCTACGGCGGCAGCTACCCCGAGTAC       c.1320
 Q  L  L  T  S  P  S  P  M  M  R  S  Y  G  G  S  Y  P  E  Y         p.440

          .         .         .         .         .         .       g.1380
 AGCAGCCCCAGCGCGCCGCCGCCGCCGCCGTCGCAGCCCCAGTCCCAGGCGGCGGCGGCG       c.1380
 S  S  P  S  A  P  P  P  P  P  S  Q  P  Q  S  Q  A  A  A  A         p.460

          .         .         .         .         .         .       g.1440
 GGGGCGGCGGCGGGCGGCCAGCAGGCGGCCGCGGGCATGGGCTTGGGCAAGGACATGGGC       c.1440
 G  A  A  A  G  G  Q  Q  A  A  A  G  M  G  L  G  K  D  M  G         p.480

          .         .         .         .         .         .       g.1500
 GCCCAGTACGCCGCTGCCAGCCCGGCCTGGGCGGCCGCGCAACAAAGGAGTCACCCGGCG       c.1500
 A  Q  Y  A  A  A  S  P  A  W  A  A  A  Q  Q  R  S  H  P  A         p.500

          .         .         .         .   | 02     .         .    g.51315
 ATGAGCCCCGGCACCCCCGGACCGACCATGGGCAGATCCCAG | GGCAGCCCAATGGATCCA    c.1560
 M  S  P  G  T  P  G  P  T  M  G  R  S  Q   | G  S  P  M  D  P      p.520

          .         .         .         .         .         .       g.51375
 ATGGTGATGAAGAGACCTCAGTTGTATGGCATGGGCAGTAACCCTCATTCTCAGCCTCAG       c.1620
 M  V  M  K  R  P  Q  L  Y  G  M  G  S  N  P  H  S  Q  P  Q         p.540

          .         .         .         .         .         .       g.51435
 CAGAGCAGTCCGTACCCAGGAGGTTCCTATGGCCCTCCAGGCCCACAGCGGTATCCAATT       c.1680
 Q  S  S  P  Y  P  G  G  S  Y  G  P  P  G  P  Q  R  Y  P  I         p.560

          .         .         .         .         .        | 03.    g.93687
 GGCATCCAGGGTCGGACTCCCGGGGCCATGGCCGGAATGCAGTACCCTCAGCAGCAG | GAC    c.1740
 G  I  Q  G  R  T  P  G  A  M  A  G  M  Q  Y  P  Q  Q  Q   | D      p.580

          .         .         .       | 04 .         .         .    g.123470
 TCTGGAGATGCCACATGGAAAGAAACATTCTGGTTG | ATGCCACCTCAGTATGGACAGCAA    c.1800
 S  G  D  A  T  W  K  E  T  F  W  L   | M  P  P  Q  Y  G  Q  Q      p.600

          .         .         .         .         .         .       g.123530
 GGTGTGAGTGGTTACTGCCAGCAGGGCCAACAGCCATATTACAGCCAGCAGCCGCAGCCC       c.1860
 G  V  S  G  Y  C  Q  Q  G  Q  Q  P  Y  Y  S  Q  Q  P  Q  P         p.620

          .         .         .         .         .         .       g.123590
 CCGCACCTCCCACCCCAGGCGCAGTATCTGCCGTCCCAGTCCCAGCAGAGGTACCAGCCG       c.1920
 P  H  L  P  P  Q  A  Q  Y  L  P  S  Q  S  Q  Q  R  Y  Q  P         p.640

        | 05 .         .         .         .         .         .    g.157590
 CAGCAG | GACATGTCTCAGGAAGGCTATGGAACTAGATCTCAACCTCCTCTGGCCCCCGGA    c.1980
 Q  Q   | D  M  S  Q  E  G  Y  G  T  R  S  Q  P  P  L  A  P  G      p.660

          .         .         .         .         .        | 06.    g.306735
 AAACCTAACCATGAAGACTTGAACTTAATACAGCAAGAAAGACCATCAAGTTTACCA | GAT    c.2040
 K  P  N  H  E  D  L  N  L  I  Q  Q  E  R  P  S  S  L  P   | D      p.680

          .         .         .         .         .         .       g.306795
 CTGTCTGGCTCCATTGATGACCTCCCCACGGGAACGGAAGCAACTTTGAGCTCAGCAGTC       c.2100
 L  S  G  S  I  D  D  L  P  T  G  T  E  A  T  L  S  S  A  V         p.700

          .         .         .         .         .         .       g.306855
 AGTGCATCCGGGTCCACGAGCAGCCAAGGGGATCAGAGCAACCCGGCGCAGTCGCCTTTC       c.2160
 S  A  S  G  S  T  S  S  Q  G  D  Q  S  N  P  A  Q  S  P  F         p.720

          .         .         .         .         .         .       g.306915
 TCCCCACATGCGTCCCCTCATCTCTCCAGCATCCCGGGGGGCCCATCTCCCTCTCCTGTT       c.2220
 S  P  H  A  S  P  H  L  S  S  I  P  G  G  P  S  P  S  P  V         p.740

          .         .         .         .         .         .       g.306975
 GGCTCTCCTGTAGGAAGCAACCAGTCTCGATCTGGCCCAATCTCTCCTGCAAGTATCCCA       c.2280
 G  S  P  V  G  S  N  Q  S  R  S  G  P  I  S  P  A  S  I  P         p.760

   | 07      .         .         .         .         .         .    g.332601
 G | GTAGTCAGATGCCTCCGCAGCCACCCGGGAGCCAGTCAGAATCCAGTTCCCATCCCGCC    c.2340
 G |   S  Q  M  P  P  Q  P  P  G  S  Q  S  E  S  S  S  H  P  A      p.780

          .         .         .  | 08      .         .         .    g.355127
 TTGAGCCAGTCACCAATGCCACAGGAAAGAG | GTTTTATGGCAGGCACACAAAGAAACCCT    c.2400
 L  S  Q  S  P  M  P  Q  E  R  G |   F  M  A  G  T  Q  R  N  P      p.800

          .         .         .         .         .         .       g.355187
 CAGATGGCTCAGTATGGACCTCAACAGACAGGACCATCCATGTCGCCTCATCCTTCTCCT       c.2460
 Q  M  A  Q  Y  G  P  Q  Q  T  G  P  S  M  S  P  H  P  S  P         p.820

          .         .         .         .         .         .       g.355247
 GGGGGCCAGATGCATGCTGGAATCAGTAGCTTTCAGCAGAGTAACTCAAGTGGGACTTAC       c.2520
 G  G  Q  M  H  A  G  I  S  S  F  Q  Q  S  N  S  S  G  T  Y         p.840

          .         .         .  | 09      .         .         .    g.370723
 GGTCCACAGATGAGCCAGTATGGACCACAAG | GTAACTACTCCAGACCCCCAGCGTATAGT    c.2580
 G  P  Q  M  S  Q  Y  G  P  Q  G |   N  Y  S  R  P  P  A  Y  S      p.860

          .         .         .         .         .         .       g.370783
 GGGGTGCCCAGTGCAAGCTACAGCGGCCCAGGGCCCGGTATGGGTATCAGTGCCAACAAC       c.2640
 G  V  P  S  A  S  Y  S  G  P  G  P  G  M  G  I  S  A  N  N         p.880

          .         .         .         .         .         .       g.370843
 CAGATGCATGGACAAGGGCCAAGCCAGCCATGTGGTGCTGTGCCCCTGGGACGAATGCCA       c.2700
 Q  M  H  G  Q  G  P  S  Q  P  C  G  A  V  P  L  G  R  M  P         p.900

          .         .         .         .         .         .       g.370903
 TCAGCTGGGATGCAGAACAGACCATTTCCTGGAAATATGAGCAGCATGACCCCCAGTTCT       c.2760
 S  A  G  M  Q  N  R  P  F  P  G  N  M  S  S  M  T  P  S  S         p.920

          .         .         .         .         .         .       g.370963
 CCTGGCATGTCTCAGCAGGGAGGGCCAGGAATGGGGCCGCCAATGCCAACTGTGAACCGT       c.2820
 P  G  M  S  Q  Q  G  G  P  G  M  G  P  P  M  P  T  V  N  R         p.940

          .         .         .         .         .          | 10    g.389111
 AAGGCACAGGAGGCAGCCGCAGCAGTGATGCAGGCTGCTGCGAACTCAGCACAAAGCAG | G    c.2880
 K  A  Q  E  A  A  A  A  V  M  Q  A  A  A  N  S  A  Q  S  R  |      p.960

          .         .         .         .         .         .       g.389171
 CAAGGCAGTTTCCCCGGCATGAACCAGAGTGGACTTATGGCTTCCAGCTCTCCCTACAGC       c.2940
 Q  G  S  F  P  G  M  N  Q  S  G  L  M  A  S  S  S  P  Y  S         p.980

          .         .         .         .         .         .       g.389231
 CAGCCCATGAACAACAGCTCTAGCCTGATGAACACGCAGGCGCCGCCCTACAGCATGGCG       c.3000
 Q  P  M  N  N  S  S  S  L  M  N  T  Q  A  P  P  Y  S  M  A         p.1000

          .         .      | 11  .         .         .         .    g.396113
 CCCGCCATGGTGAACAGCTCGGCAG | CATCTGTGGGTCTTGCAGATATGATGTCTCCTGGT    c.3060
 P  A  M  V  N  S  S  A  A |   S  V  G  L  A  D  M  M  S  P  G      p.1020

          .         .         .         .         .         .       g.396173
 GAATCCAAACTGCCCCTGCCTCTCAAAGCAGACGGCAAAGAAGAAGGCACTCCACAGCCC       c.3120
 E  S  K  L  P  L  P  L  K  A  D  G  K  E  E  G  T  P  Q  P         p.1040

          .      | 12  .         .         .         .         .    g.403084
 GAGAGCAAGTCAAAG | AAGTCCAGCTCCTCCACCACTACTGGGGAGAAGATCACGAAGGTG    c.3180
 E  S  K  S  K   | K  S  S  S  S  T  T  T  G  E  K  I  T  K  V      p.1060

          .         .         .         .         .         .       g.403144
 TACGAGCTGGGGAATGAGCCAGAGAGAAAGCTCTGGGTCGACCGATACCTCACCTTCATG       c.3240
 Y  E  L  G  N  E  P  E  R  K  L  W  V  D  R  Y  L  T  F  M         p.1080

          .         .         .         .         .         .       g.403204
 GAAGAGAGAGGCTCTCCTGTCTCAAGTCTGCCTGCCGTGGGCAAGAAGCCCCTGGACCTG       c.3300
 E  E  R  G  S  P  V  S  S  L  P  A  V  G  K  K  P  L  D  L         p.1100

          .         .         .         .      | 13  .         .    g.406316
 TTCCGACTCTACGTCTGCGTCAAAGAGATCGGGGGTTTGGCCCAG | GTTAATAAAAACAAG    c.3360
 F  R  L  Y  V  C  V  K  E  I  G  G  L  A  Q   | V  N  K  N  K      p.1120

          .         .         .         .         .         .       g.406376
 AAGTGGCGTGAGCTGGCAACCAACCTAAACGTTGGCACCTCAAGCAGTGCAGCGAGCTCC       c.3420
 K  W  R  E  L  A  T  N  L  N  V  G  T  S  S  S  A  A  S  S         p.1140

          .         .         .         .         .         .       g.406436
 CTGAAAAAGCAGTATATTCAGTACCTGTTTGCCTTTGAGTGCAAGATCGAACGTGGGGAG       c.3480
 L  K  K  Q  Y  I  Q  Y  L  F  A  F  E  C  K  I  E  R  G  E         p.1160

          .         .         .         .         .         .       g.406496
 GAGCCCCCGCCGGAAGTCTTCAGCACCGGGGACACCAAAAAGCAGCCCAAGCTCCAGCCG       c.3540
 E  P  P  P  E  V  F  S  T  G  D  T  K  K  Q  P  K  L  Q  P         p.1180

          . | 14       .         .         .         .         .    g.411762
 CCATCTCCTG | CTAACTCGGGATCCTTGCAAGGCCCACAGACCCCCCAGTCAACTGGCAGC    c.3600
 P  S  P  A |   N  S  G  S  L  Q  G  P  Q  T  P  Q  S  T  G  S      p.1200

          .         .         .         .         .         .       g.411822
 AATTCCATGGCAGAGGTTCCAGGTGACCTGAAGCCACCTACCCCAGCCTCCACCCCTCAC       c.3660
 N  S  M  A  E  V  P  G  D  L  K  P  P  T  P  A  S  T  P  H         p.1220

          .         .          | 15        .         .         .    g.412139
 GGCCAGATGACTCCAATGCAAGGTGGAAG | AAGCAGTACAATCAGTGTGCACGACCCATTC    c.3720
 G  Q  M  T  P  M  Q  G  G  R  |  S  S  T  I  S  V  H  D  P  F      p.1240

          .         .         .         .         .         .       g.412199
 TCAGATGTGAGTGATTCATCCTTCCCGAAACGGAACTCCATGACTCCAAACGCCCCCTAC       c.3780
 S  D  V  S  D  S  S  F  P  K  R  N  S  M  T  P  N  A  P  Y         p.1260

          .         .         .         .         .         .       g.412259
 CAGCAGGGCATGAGCATGCCCGATGTGATGGGCAGGATGCCCTATGAGCCCAACAAGGAC       c.3840
 Q  Q  G  M  S  M  P  D  V  M  G  R  M  P  Y  E  P  N  K  D         p.1280

          .         .   | 16     .         .         .         .    g.418273
 CCCTTTGGGGGAATGAGAAAAG | TGCCTGGAAGCAGCGAGCCCTTTATGACGCAAGGACAG    c.3900
 P  F  G  G  M  R  K  V |   P  G  S  S  E  P  F  M  T  Q  G  Q      p.1300

          .         .         .         .         .         .       g.418333
 ATGCCCAACAGCAGCATGCAGGACATGTACAACCAAAGTCCCTCCGGAGCAATGTCTAAC       c.3960
 M  P  N  S  S  M  Q  D  M  Y  N  Q  S  P  S  G  A  M  S  N         p.1320

          .         .         .         .         .    | 17    .    g.420888
 CTGGGCATGGGGCAGCGCCAGCAGTTTCCCTATGGAGCCAGTTACGACCGAAG | GCATGAA    c.4020
 L  G  M  G  Q  R  Q  Q  F  P  Y  G  A  S  Y  D  R  R  |  H  E      p.1340

          .         .         .         .         .         .       g.420948
 CCTTATGGGCAGCAGTATCCAGGCCAAGGCCCTCCCTCGGGACAGCCGCCGTATGGAGGG       c.4080
 P  Y  G  Q  Q  Y  P  G  Q  G  P  P  S  G  Q  P  P  Y  G  G         p.1360

          .         .         . | 18       .         .         .    g.422805
 CACCAGCCCGGCCTGTACCCACAGCAGCCG | AATTACAAACGCCATATGGACGGCATGTAC    c.4140
 H  Q  P  G  L  Y  P  Q  Q  P   | N  Y  K  R  H  M  D  G  M  Y      p.1380

          .         .         .         .         .         .       g.422865
 GGGCCCCCAGCCAAGCGCCACGAGGGCGACATGTACAACATGCAGTACAGCAGCCAGCAG       c.4200
 G  P  P  A  K  R  H  E  G  D  M  Y  N  M  Q  Y  S  S  Q  Q         p.1400

          .         .         .         .         .         .       g.422925
 CAGGAGATGTACAACCAGTATGGAGGCTCCTACTCGGGCCCGGACCGCAGGCCCATCCAG       c.4260
 Q  E  M  Y  N  Q  Y  G  G  S  Y  S  G  P  D  R  R  P  I  Q         p.1420

          .         .         .         .         .         .       g.422985
 GGCCAGTACCCGTATCCCTACAGCAGGGAGAGGATGCAGGGCCCGGGGCAGATCCAGACA       c.4320
 G  Q  Y  P  Y  P  Y  S  R  E  R  M  Q  G  P  G  Q  I  Q  T         p.1440

          .         .         .         .         .         .       g.423045
 CACGGAATCCCGCCTCAGATGATGGGCGGCCCGCTGCAGTCGTCCTCCAGTGAGGGGCCT       c.4380
 H  G  I  P  P  Q  M  M  G  G  P  L  Q  S  S  S  S  E  G  P         p.1460

          .         .         .         .         .         .       g.423105
 CAGCAGAATATGTGGGCAGCACGCAATGATATGCCTTATCCCTACCAGAACAGGCAGGGC       c.4440
 Q  Q  N  M  W  A  A  R  N  D  M  P  Y  P  Y  Q  N  R  Q  G         p.1480

          .         .         .         .         .         .       g.423165
 CCTGGCGGCCCTACACAGGCGCCCCCTTACCCAGGCATGAACCGCACAGACGATATGATG       c.4500
 P  G  G  P  T  Q  A  P  P  Y  P  G  M  N  R  T  D  D  M  M         p.1500

          .         .         .         .         .         .       g.423225
 GTACCCGATCAGAGGATAAATCATGAGAGCCAGTGGCCTTCTCACGTCAGCCAGCGTCAG       c.4560
 V  P  D  Q  R  I  N  H  E  S  Q  W  P  S  H  V  S  Q  R  Q         p.1520

          .         .         .         .         .         .       g.423285
 CCTTATATGTCGTCCTCAGCCTCCATGCAGCCCATCACACGCCCACCACAGCCGTCCTAC       c.4620
 P  Y  M  S  S  S  A  S  M  Q  P  I  T  R  P  P  Q  P  S  Y         p.1540

          .         .         .         .         .         .       g.423345
 CAGACGCCACCGTCACTGCCAAATCACATCTCCAGGGCGCCCAGCCCAGCGTCCTTCCAG       c.4680
 Q  T  P  P  S  L  P  N  H  I  S  R  A  P  S  P  A  S  F  Q         p.1560

          .         .         .         .         .         .       g.423405
 CGCTCCCTGGAGAACCGCATGTCTCCAAGCAAGTCTCCTTTTCTGCCGTCTATGAAGATG       c.4740
 R  S  L  E  N  R  M  S  P  S  K  S  P  F  L  P  S  M  K  M         p.1580

          .         .         .         .         .         .       g.423465
 CAGAAGGTCATGCCCACGGTCCCCACATCCCAGGTCACCGGGCCACCACCCCAACCACCC       c.4800
 Q  K  V  M  P  T  V  P  T  S  Q  V  T  G  P  P  P  Q  P  P         p.1600

          .         .         .         .         .         .       g.423525
 CCAATCAGAAGGGAGATCACCTTTCCTCCTGGCTCAGTAGAAGCATCACAACCAGTCTTG       c.4860
 P  I  R  R  E  I  T  F  P  P  G  S  V  E  A  S  Q  P  V  L         p.1620

          .         .         .     | 19   .         .         .    g.425962
 AAACAAAGGCGAAAGATTACCTCCAAAGATATCG | TTACTCCTGAGGCGTGGCGTGTGATG    c.4920
 K  Q  R  R  K  I  T  S  K  D  I  V |   T  P  E  A  W  R  V  M      p.1640

          .         .         .         .         .         .       g.426022
 ATGTCCCTTAAATCAGGTCTTTTGGCTGAGAGTACGTGGGCTTTGGACACTATTAATATT       c.4980
 M  S  L  K  S  G  L  L  A  E  S  T  W  A  L  D  T  I  N  I         p.1660

          .         .         .         .      | 20  .         .    g.428252
 CTTCTGTATGATGACAGCACTGTTGCTACTTTCAATCTCTCCCAG | TTGTCTGGATTTCTC    c.5040
 L  L  Y  D  D  S  T  V  A  T  F  N  L  S  Q   | L  S  G  F  L      p.1680

          .         .         .         .         .         .       g.428312
 GAACTTTTAGTCGAGTACTTTAGAAAATGCCTGATTGACATTTTTGGAATTCTTATGGAA       c.5100
 E  L  L  V  E  Y  F  R  K  C  L  I  D  I  F  G  I  L  M  E         p.1700

          .         .         .         .         .         .       g.428372
 TATGAAGTGGGAGACCCCAGCCAAAAAGCACTTGATCACAACGCAGCAAGGAAGGATGAC       c.5160
 Y  E  V  G  D  P  S  Q  K  A  L  D  H  N  A  A  R  K  D  D         p.1720

          .         .         .         .         .         .       g.428432
 AGCCAGTCCTTGGCAGACGATTCTGGGAAAGAGGAGGAAGATGCTGAATGTATTGATGAC       c.5220
 S  Q  S  L  A  D  D  S  G  K  E  E  E  D  A  E  C  I  D  D         p.1740

          .         .         .         .         .         .       g.428492
 GACGAGGAAGACGAGGAGGATGAGGAGGAAGACAGCGAGAAGACAGAAAGCGATGAAAAG       c.5280
 D  E  E  D  E  E  D  E  E  E  D  S  E  K  T  E  S  D  E  K         p.1760

          .         .         .         .         .         .       g.428552
 AGCAGCATCGCTCTGACTGCCCCGGACGCCGCTGCAGACCCAAAGGAGAAGCCCAAGCAA       c.5340
 S  S  I  A  L  T  A  P  D  A  A  A  D  P  K  E  K  P  K  Q         p.1780

          .         .         .         .         .         .       g.428612
 GCCAGTAAGTTCGACAAGCTGCCAATAAAGATAGTCAAAAAGAACAACCTGTTTGTTGTT       c.5400
 A  S  K  F  D  K  L  P  I  K  I  V  K  K  N  N  L  F  V  V         p.1800

          .         .         .         .         .         .       g.428672
 GACCGATCTGACAAGTTGGGGCGTGTGCAGGAGTTCAATAGTGGCCTTCTGCACTGGCAG       c.5460
 D  R  S  D  K  L  G  R  V  Q  E  F  N  S  G  L  L  H  W  Q         p.1820

          .         .         .         .         .         .       g.428732
 CTCGGCGGGGGTGACACCACCGAGCACATTCAGACTCACTTTGAGAGCAAGATGGAAATT       c.5520
 L  G  G  G  D  T  T  E  H  I  Q  T  H  F  E  S  K  M  E  I         p.1840

          .         .         .         .         .         .       g.428792
 CCTCCTCGCAGGCGCCCACCTCCCCCCTTAAGCTCCGCAGGTAGAAAGAAAGAGCAAGAA       c.5580
 P  P  R  R  R  P  P  P  P  L  S  S  A  G  R  K  K  E  Q  E         p.1860

          .         .         .         .         .         .       g.428852
 GGCAAAGGCGACTCTGAAGAGCAGCAAGAGAAAAGCATCATAGCAACCATCGATGACGTC       c.5640
 G  K  G  D  S  E  E  Q  Q  E  K  S  I  I  A  T  I  D  D  V         p.1880

          .         .         .         .         .         .       g.428912
 CTCTCTGCTCGGCCAGGGGCATTGCCTGAAGACGCAAACCCTGGGCCCCAGACCGAAAGC       c.5700
 L  S  A  R  P  G  A  L  P  E  D  A  N  P  G  P  Q  T  E  S         p.1900

          .         .         .         .         .         .       g.428972
 AGTAAGTTTCCCTTTGGTATCCAGCAAGCCAAAAGTCACCGGAACATCAAGCTGCTGGAG       c.5760
 S  K  F  P  F  G  I  Q  Q  A  K  S  H  R  N  I  K  L  L  E         p.1920

          .         .         .         .         .         .       g.429032
 GACGAGCCCAGGAGCCGAGACGAGACTCCTCTGTGTACCATCGCGCACTGGCAGGACTCG       c.5820
 D  E  P  R  S  R  D  E  T  P  L  C  T  I  A  H  W  Q  D  S         p.1940

          .         .         .         .         .         .       g.429092
 CTGGCTAAGCGATGCATCTGTGTGTCCAATATTGTCCGTAGCTTGTCATTCGTGCCTGGC       c.5880
 L  A  K  R  C  I  C  V  S  N  I  V  R  S  L  S  F  V  P  G         p.1960

          .         .         .         .         .         .       g.429152
 AATGATGCCGAAATGTCCAAACATCCAGGCCTGGTGCTGATCCTGGGGAAGCTGATTCTT       c.5940
 N  D  A  E  M  S  K  H  P  G  L  V  L  I  L  G  K  L  I  L         p.1980

          .         .         .         .         .         .       g.429212
 CTTCACCACGAGCATCCAGAGAGAAAGCGAGCACCGCAGACCTATGAGAAAGAGGAGGAT       c.6000
 L  H  H  E  H  P  E  R  K  R  A  P  Q  T  Y  E  K  E  E  D         p.2000

          .         .         .         .         .         .       g.429272
 GAGGACAAGGGGGTGGCCTGCAGCAAAGATGAGTGGTGGTGGGACTGCCTCGAGGTCTTG       c.6060
 E  D  K  G  V  A  C  S  K  D  E  W  W  W  D  C  L  E  V  L         p.2020

          .         .         .         .         .         .       g.429332
 AGGGATAACACGTTGGTCACGTTGGCCAACATTTCCGGGCAGCTAGACTTGTCTGCTTAC       c.6120
 R  D  N  T  L  V  T  L  A  N  I  S  G  Q  L  D  L  S  A  Y         p.2040

          .         .         .         .         .         .       g.429392
 ACGGAAAGCATCTGCTTGCCAATTTTGGATGGCTTGCTGCACTGGATGGTGTGCCCGTCT       c.6180
 T  E  S  I  C  L  P  I  L  D  G  L  L  H  W  M  V  C  P  S         p.2060

          .         .         .         .         .         .       g.429452
 GCAGAGGCACAAGATCCCTTTCCAACTGTGGGACCCAACTCGGTCCTGTCGCCTCAGAGA       c.6240
 A  E  A  Q  D  P  F  P  T  V  G  P  N  S  V  L  S  P  Q  R         p.2080

          .         .         .         .         .         .       g.429512
 CTTGTGCTGGAGACCCTCTGTAAACTCAGTATCCAGGACAATAATGTGGACCTGATCTTG       c.6300
 L  V  L  E  T  L  C  K  L  S  I  Q  D  N  N  V  D  L  I  L         p.2100

          .         .         .         .         .         .       g.429572
 GCCACTCCTCCATTTAGTCGTCAGGAGAAATTCTATGCTACATTAGTTAGGTACGTTGGG       c.6360
 A  T  P  P  F  S  R  Q  E  K  F  Y  A  T  L  V  R  Y  V  G         p.2120

          .         .         .         .         .         .       g.429632
 GATCGCAAAAACCCAGTCTGTCGAGAAATGTCCATGGCGCTTTTATCGAACCTTGCCCAA       c.6420
 D  R  K  N  P  V  C  R  E  M  S  M  A  L  L  S  N  L  A  Q         p.2140

          .         .         .         .         .         .       g.429692
 GGGGACGCACTAGCAGCAAGGGCCATAGCTGTGCAGAAAGGAAGCATTGGAAACTTGATA       c.6480
 G  D  A  L  A  A  R  A  I  A  V  Q  K  G  S  I  G  N  L  I         p.2160

          .         .         .         .         .         .       g.429752
 AGCTTCCTAGAGGATGGGGTCACGATGGCCCAGTACCAGCAGAGCCAGCACAACCTCATG       c.6540
 S  F  L  E  D  G  V  T  M  A  Q  Y  Q  Q  S  Q  H  N  L  M         p.2180

          .         .         .         .         .         .       g.429812
 CACATGCAGCCCCCGCCCCTGGAACCACCTAGCGTAGACATGATGTGCAGGGCGGCCAAG       c.6600
 H  M  Q  P  P  P  L  E  P  P  S  V  D  M  M  C  R  A  A  K         p.2200

          .         .         .         .         .         .       g.429872
 GCTTTGCTAGCCATGGCCAGAGTGGACGAAAACCGCTCGGAATTCCTTTTGCACGAGGGC       c.6660
 A  L  L  A  M  A  R  V  D  E  N  R  S  E  F  L  L  H  E  G         p.2220

          .         .         .         .         .         .       g.429932
 CGGTTGCTGGATATCTCGATATCAGCTGTCCTGAACTCTCTGGTTGCATCTGTCATCTGT       c.6720
 R  L  L  D  I  S  I  S  A  V  L  N  S  L  V  A  S  V  I  C         p.2240

          .         .         .                                     g.429962
 GATGTACTGTTTCAGATTGGGCAGTTATGA                                     c.6750
 D  V  L  F  Q  I  G  Q  L  X                                       p.2249

          .         .         .         .         .         .       g.430022
 cataagtgagaaggcaagcatgtgtgagtgaagattagagggtcacatataactggctgt       c.*60

          .         .         .         .         .         .       g.430082
 tttctgttcttgtttatccagcgtaggaagaaggaaaagaaaatctttgctcctctgccc       c.*120

          .         .         .         .         .         .       g.430142
 cattcactatttaccaattgggaattaaagaaataattaatttgaacagttatgaaatta       c.*180

          .         .         .         .         .         .       g.430202
 atatttgctgtctgtgtgtataagtacatcctttggggttttttttttctctttttttta       c.*240

          .         .         .         .         .         .       g.430262
 accaaagttgctgtctagtgcattcaaaggtcactttttgttcttcacagatctttttaa       c.*300

          .         .         .         .         .         .       g.430322
 tgttctttcccatgttgtattgcatttttgggggaagcaaattgactttaaagaaaaaag       c.*360

          .         .         .         .         .         .       g.430382
 ttgtggcaaaagatgctaagatgcgaaaatttcaccacactgagtcaaaaaggtgaaaaa       c.*420

          .         .         .         .         .         .       g.430442
 ttatccatttcctatgcgttttactcctcagagaatgaaaaaaactgcatcccatcaccc       c.*480

          .         .         .         .         .         .       g.430502
 aaagttctgtgcaatagaaatttctacagatacaggtataggggctcaaggaggtatgtc       c.*540

          .         .         .         .         .         .       g.430562
 ggtcagtagtcaaaactatgaaatgatactggtttctccacaggaatatggttccattag       c.*600

          .         .         .         .         .         .       g.430622
 gctgggagcaaaaacaatgttttttaagattgagaatacatacctgacaacgatccggaa       c.*660

          .         .         .         .         .         .       g.430682
 actgctcctcaccactcccgtcatgcctgctgtcggcgtttgaccttccacgtgacagtt       c.*720

          .         .         .         .         .         .       g.430742
 cttcacaattcctttcatcattttttaaatattttttttactgcctatgggctgtgatgt       c.*780

          .         .         .         .         .         .       g.430802
 atatagaagttgtacattaaacataccctcatttttttcttttctttttttttttttttt       c.*840

          .         .         .         .         .         .       g.430862
 ttagtacaaagttttagtttctttttcatgatgtggtaactacgaagtgatggtagattt       c.*900

          .         .         .         .         .         .       g.430922
 aaataattttttatttttattttatatattttttcattagggccatatctccaaaaaaag       c.*960

          .         .         .         .         .         .       g.430982
 aaagaaaaaatacaaaaaacaaaaacaaaaaaaaaagagggtaatgtacaagtttctgta       c.*1020

          .         .         .         .         .         .       g.431042
 tgtataaagtcatgctcgatttcaggagagcagctgatcacaatttgcttcatgaatcaa       c.*1080

          .         .         .         .         .         .       g.431102
 ggtgtggaaatggttatatatggattgatttagaaaatggttaccagtacagtcaaaaaa       c.*1140

          .         .         .         .         .         .       g.431162
 gagaaaatgaaaaaaatacaactaaaaggaagaaacacaacttcaaagatttttcagtga       c.*1200

          .         .         .         .         .         .       g.431222
 tgagaatccacatttgtatttcaagataatgtagtttaaaaaaaaaaaaaagaaaaaaac       c.*1260

          .         .         .         .         .         .       g.431282
 ttgatgtaaattcctccttttcctctggcttaatgaatatcatttattcagtataaaatc       c.*1320

          .         .         .         .         .         .       g.431342
 tttatatgttccacatgttaagaataaatgtacattaaatcttgttaagcactgtgatgg       c.*1380

          .         .         .         .         .         .       g.431402
 gtgttcttgaatactgttctagtttccttaaagtggtttcctagtaatcaagttatttac       c.*1440

          .         .         .         .         .         .       g.431462
 aagaaataggggaatgcagcagtgtattcacattataaaaccctacatttggaagagacc       c.*1500

          .         .         .         .         .         .       g.431522
 tttaggggttacctactttagagtggggagcaacagtttgattttctcaaattacttagc       c.*1560

          .         .         .         .         .         .       g.431582
 taattagtctttctttgaagcaattaactctaacgacattgaggtatgatcattttcagt       c.*1620

          .         .         .         .         .         .       g.431642
 atttatgggaggtggctgctgacccacttgaggtgagatctcagaagcttaactggcctg       c.*1680

          .         .         .         .         .         .       g.431702
 aaaatgtaacattctgccttttactaactccatcttagtttaatcaaagttcaatctatt       c.*1740

          .         .         .         .         .         .       g.431762
 ccttgtttcttctgtgtgcctcagagttattttgcatttagtttactccaccgtgtataa       c.*1800

          .         .         .         .         .         .       g.431822
 tatttatactgtgcaatgttaaaaaagaatctgttatattgtatgtggtgtacatagtgc       c.*1860

          .         .         .         .         .         .       g.431882
 aaagtgatgatttctatttcagggcatattatggttctcatattccttcctacctggtgc       c.*1920

          .         .         .         .         .         .       g.431942
 acagtagctttttaatactagtcacttctaatttaaactttctcttcctgggtcattgac       c.*1980

          .         .         .         .         .         .       g.432002
 tgttactgtgtaataatcgatttctttgaaactgctgcataattatgctgttagtggacc       c.*2040

          .         .         .         .         .         .       g.432062
 tctacctcttctcttccctctcccaatcacagtatactcagaatccccagcccctcgcat       c.*2100

          .         .         .         .         .         .       g.432122
 acattgtgtcggttcacattactcacagtaatatatggaagagttagacaagaacatgca       c.*2160

          .         .         .         .         .         .       g.432182
 gttacagtcattgtgagacgtgactctccagtgtcacgaggaaaaaaatcatcttttctg       c.*2220

          .         .         .         .         .         .       g.432242
 caaacagtctctcatctgtcaactcccacattactgagtcaaacagtcttcttacataac       c.*2280

          .         .         .         .         .         .       g.432302
 aatgcaaccaaatatatgttgaattaaagacccatttataattctgctttaaatacatct       c.*2340

          .         .         .         .         .         .       g.432362
 gcttgctaagaacagatttcagtgctccaagcttcaaatatggagatttgtaagagggaa       c.*2400

          .         .         .         .         .         .       g.432422
 ttcaatattattctaatttctctcttacagagtacaaataaaaggtgtatacaaactccg       c.*2460

          .         .         .         .         .         .       g.432482
 aacatatccagtattccaattcctttgtcaatcagaagagtaaaataattaacaaaagac       c.*2520

          .         .         .         .         .         .       g.432542
 tgttgttatggtttgcattgtaaccgatacgcagagtctgaccgttgggcaacaagtttt       c.*2580

          .         .         .         .         .         .       g.432602
 tctatcctgatgcgcaacacagtctctagagactaatccaggaagactttagcctccttt       c.*2640

          .         .         .         .         .         .       g.432662
 ccatattctcacccccgaatcaagatttacagaagcccacgaagaatttacagcctgctt       c.*2700

          .         .         .         .         .         .       g.432722
 gagatcatcttgcctataaactgagttattgctttgtcctaaaaattagtcggttttttt       c.*2760

          .         .         .         .         .         .       g.432782
 ttttctatgaggcttttcagaaatttacaggatgcccagactttacatgtgtaccaaaaa       c.*2820

          .         .         .         .         .         .       g.432842
 aaaaaaaaagataaaaaataaaggtgcaaagaaagtttagtattttggaatggtgctata       c.*2880

                                                                    g.432850
 aagttgaa                                                           c.*2888

 (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 AT rich interactive domain 1B (SWI1-like) 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.

Powered by LOVD v.3.0 Build 13
©2004-2015 Leiden University Medical Center