nucleoporin 205kDa (NUP205) - coding DNA reference sequence

(used for variant description)

(last modified June 29, 2018)


This file was created to facilitate the description of sequence variants on transcript NM_015135.2 in the NUP205 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_051184.1, covering NUP205 transcript NM_015135.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5031
                              ggcagaagggctctgttagtgcgcctctaag       c.-1

          .         .         | 02         .         .         .    g.18223
 ATGGCGACGCCTTTGGCGGTAAATTCGG | CTGCTAGTCTATGGGGTCCTTACAAAGACATT    c.60
 M  A  T  P  L  A  V  N  S  A |   A  S  L  W  G  P  Y  K  D  I      p.20

          .         .         .         .         .         .       g.18283
 TGGCATAAAGTGGGAAATGCTCTTTGGAGAAGACAACCTGAAGCTGTTCACCTTCTTGAT       c.120
 W  H  K  V  G  N  A  L  W  R  R  Q  P  E  A  V  H  L  L  D         p.40

          .         .         .         .         .  | 03      .    g.20749
 AAGATTTTGAAGAAACACAAACCTGACTTCATCTCATTGTTCAAAAATCCG | CCAAAAAAT    c.180
 K  I  L  K  K  H  K  P  D  F  I  S  L  F  K  N  P   | P  K  N      p.60

          .         .         .         .         .         .       g.20809
 GTTCAACAGCATGAGAAGGTTCAGAAAGCCAGTACAGAGGGAGTCGCCATTCAGGGTCAA       c.240
 V  Q  Q  H  E  K  V  Q  K  A  S  T  E  G  V  A  I  Q  G  Q         p.80

          .         .         .         .         .         .       g.20869
 CAGGGAACTCGACTTCTTCCTGAACAGCTCATTAAAGAAGCCTTTATTCTCAGTGACCTT       c.300
 Q  G  T  R  L  L  P  E  Q  L  I  K  E  A  F  I  L  S  D  L         p.100

          .         .         .         .    | 04    .         .    g.23373
 TTTGATATTGGAGAATTGGCAGCTGTTGAGCTTCTTCTTGCTG | GAGAGCATCAACAGCCA    c.360
 F  D  I  G  E  L  A  A  V  E  L  L  L  A  G |   E  H  Q  Q  P      p.120

          .         .         .         .         .         .       g.23433
 CATTTTCCTGGCCTTACCAGAGGATTAGTAGCTGTTCTTCTGTACTGGGATGGAAAGCGA       c.420
 H  F  P  G  L  T  R  G  L  V  A  V  L  L  Y  W  D  G  K  R         p.140

          .         .         .         .         .         .       g.23493
 TGCATTGCGAATTCCTTGAAAGCCTTGATACAGTCTAGACGGGGAAAGACATGGACCCTA       c.480
 C  I  A  N  S  L  K  A  L  I  Q  S  R  R  G  K  T  W  T  L         p.160

          | 05         .         .         .         .         .    g.24107
 GAACTCAG | TCCAGAGCTGGCTTCCATGACAACACGCTTTACAGATGAGCTGATGGAGCAA    c.540
 E  L  S  |  P  E  L  A  S  M  T  T  R  F  T  D  E  L  M  E  Q      p.180

          .         .         .         .         .         .       g.24167
 GGATTGACTTATAAAGTTCTTACGCTGGTGTCACAGATTGATGTGAATAATGAGTTTGAG       c.600
 G  L  T  Y  K  V  L  T  L  V  S  Q  I  D  V  N  N  E  F  E         p.200

          .         .         .         .         | 06         .    g.24894
 AAACTACAGCGAGAGAGAGGTTTGGGCAGTGAAAAACATCGCAAAGAG | GTTTCTGATCTC    c.660
 K  L  Q  R  E  R  G  L  G  S  E  K  H  R  K  E   | V  S  D  L      p.220

          .         .         .         .         .         .       g.24954
 ATTAAGGAGTGCAGGCAGTCTCTTGCAGAAAGCCTTTTTGCCTGGGCTTGCCAGTCACCT       c.720
 I  K  E  C  R  Q  S  L  A  E  S  L  F  A  W  A  C  Q  S  P         p.240

          .         .         .         .         .         .       g.25014
 TTAGGCAAAGAAGACACTCTCCTCCTCATTGGACATTTGGAAAGAGTGACAGTTGAGGCT       c.780
 L  G  K  E  D  T  L  L  L  I  G  H  L  E  R  V  T  V  E  A         p.260

          .         .         .         .         .         .       g.25074
 AATGGCTCACTGGATGCAGTGAATCTGGCTCTTCTTATGGCGCTTCTATACTGTTTTGAT       c.840
 N  G  S  L  D  A  V  N  L  A  L  L  M  A  L  L  Y  C  F  D         p.280

          .         .         .        | 07.         .         .    g.25860
 ATCAGTTTTATAGAGCAAAGCACAGAGGAACGAGATG | ATATGATTCATCAACTTCCACTG    c.900
 I  S  F  I  E  Q  S  T  E  E  R  D  D |   M  I  H  Q  L  P  L      p.300

          .         .         .         .         .         .       g.25920
 TTGACAGAAAAACAGTACATTGCAACAATTCACTCTCGTCTTCAGGACTCACAGCTTTGG       c.960
 L  T  E  K  Q  Y  I  A  T  I  H  S  R  L  Q  D  S  Q  L  W         p.320

          .         .         .         .         .         .       g.25980
 AAACTGCCTGGGCTCCAAGCCACTGTTAGACTTGCCTGGGCGCTGGCATTGAGGGGAATA       c.1020
 K  L  P  G  L  Q  A  T  V  R  L  A  W  A  L  A  L  R  G  I         p.340

          .         .   | 08     .         .         .         .    g.31956
 TCCCAGCTACCTGATGTGACAG | CTCTGGCAGAATTCACAGAGGCAGATGAAGCAATGGCA    c.1080
 S  Q  L  P  D  V  T  A |   L  A  E  F  T  E  A  D  E  A  M  A      p.360

          .         .         .         .         .         .       g.32016
 GAACTCGCAATTGCTGACAACGTTTTCCTGTTCCTCATGGAATCTGTAGTGGTATCAGAA       c.1140
 E  L  A  I  A  D  N  V  F  L  F  L  M  E  S  V  V  V  S  E         p.380

          .         .         .         .         .         .       g.32076
 TACTTTTATCAGGAAGAATTTTATATTCGCAGAGTCCATAATCTCATCACAGATTTCCTT       c.1200
 Y  F  Y  Q  E  E  F  Y  I  R  R  V  H  N  L  I  T  D  F  L         p.400

          .         | 09         .         .         .         .    g.34703
 GCACTTATGCCAATGAAG | GTGAAACAGCTGAGGAATCGGGCAGATGAAGATGCTCGAATG    c.1260
 A  L  M  P  M  K   | V  K  Q  L  R  N  R  A  D  E  D  A  R  M      p.420

          .         .         .         .         .         .       g.34763
 ATTCACATGAGTATGCAGATGGGTAATGAACCCCCCATTTCACTTAGAAGGGACCTGGAA       c.1320
 I  H  M  S  M  Q  M  G  N  E  P  P  I  S  L  R  R  D  L  E         p.440

          .      | 10  .         .         .         .         .    g.34986
 CACTTAATGCTTTTG | ATTGGCGAGCTATATAAAAAGAACCCTTTTCATCTGGAGCTTGCT    c.1380
 H  L  M  L  L   | I  G  E  L  Y  K  K  N  P  F  H  L  E  L  A      p.460

          .         .         .         .         .         .       g.35046
 CTAGAATATTGGTGTCCCACAGAGCCTCTTCAGACTCCGACTATCATGGGCTCTTATCTA       c.1440
 L  E  Y  W  C  P  T  E  P  L  Q  T  P  T  I  M  G  S  Y  L         p.480

          .         .         .    | 11    .         .         .    g.38563
 GGGGTGGCTCATCAGCGGCCCCCTCAACGCCAG | GTTGTCTTGTCAAAGTTTGTTAGGCAA    c.1500
 G  V  A  H  Q  R  P  P  Q  R  Q   | V  V  L  S  K  F  V  R  Q      p.500

          .         .         .         .         .         .       g.38623
 ATGGGTGACCTGTTGCCTCCAACTATTTATATTCCTTATTTGAAGATGCTCCAGGGATTG       c.1560
 M  G  D  L  L  P  P  T  I  Y  I  P  Y  L  K  M  L  Q  G  L         p.520

          .         .         .         .         .         .       g.38683
 GCCAATGGGCCTCAGTGTGCCCACTACTGTTTCAGCCTGCTCAAAGTCAATGGTAGTAGT       c.1620
 A  N  G  P  Q  C  A  H  Y  C  F  S  L  L  K  V  N  G  S  S         p.540

      | 12   .         .         .         .         .         .    g.40129
 CATG | TTGAAAATATTCAGGGAGCAGGTGGCAGTCCTGTTTCCTGGGAACATTTCTTTCAC    c.1680
 H  V |   E  N  I  Q  G  A  G  G  S  P  V  S  W  E  H  F  F  H      p.560

          .         .         .         .         .         .       g.40189
 TCCTTGATGCTTTACCACGAACACCTTCGGAAGGATCTTCCAAGTGCAGATAGTGTCCAG       c.1740
 S  L  M  L  Y  H  E  H  L  R  K  D  L  P  S  A  D  S  V  Q         p.580

          .         .         .         .         .         .       g.40249
 TACCGTCACCTTCCTTCCCGTGGCATCACCCAGAAGGAGCAAGATGGATTGATTGCTTTT       c.1800
 Y  R  H  L  P  S  R  G  I  T  Q  K  E  Q  D  G  L  I  A  F         p.600

          .         .         . | 13       .         .         .    g.41663
 TTGCAGCTCACGTCTACCATCATTACTTGG | AGTGAAAATGCTCGCTTGGCACTCTGTGAA    c.1860
 L  Q  L  T  S  T  I  I  T  W   | S  E  N  A  R  L  A  L  C  E      p.620

          .         .         .         .         .         .       g.41723
 CACCCTCAGTGGACCCCTGTTGTGGTGATTCTGGGACTCCTCCAATGCAGTATTCCCCCT       c.1920
 H  P  Q  W  T  P  V  V  V  I  L  G  L  L  Q  C  S  I  P  P         p.640

          .         .         .         .         .         .       g.41783
 GTCCTAAAAGCTGAGCTACTGAAGACACTCGCAGCTTTTGGAAAATCTCCTGAAATTGCT       c.1980
 V  L  K  A  E  L  L  K  T  L  A  A  F  G  K  S  P  E  I  A         p.660

          .         .         .    | 14    .         .         .    g.44481
 GCTTCCCTCTGGCAGTCATTGGAATACACTCAG | ATACTGCAGACCGTGAGGATTCCAAGC    c.2040
 A  S  L  W  Q  S  L  E  Y  T  Q   | I  L  Q  T  V  R  I  P  S      p.680

          .         .     | 15   .         .         .         .    g.45120
 CAAAGGCAAGCTATTGGTATTGAG | GTTGAACTAAATGAAATAGAATCCCGGTGTGAAGAA    c.2100
 Q  R  Q  A  I  G  I  E   | V  E  L  N  E  I  E  S  R  C  E  E      p.700

          .         .         .         .         .         .       g.45180
 TACCCATTGACTCGGGCCTTTTGCCAGCTTATTAGTACTCTGGTGGAGAGCTCATTTCCT       c.2160
 Y  P  L  T  R  A  F  C  Q  L  I  S  T  L  V  E  S  S  F  P         p.720

          .         .         .         .         .         .       g.45240
 TCTAATTTGGGTGCTGGACTGCGGCCCCCTGGCTTTGACCCTTATTTGCAGTTCCTTAGA       c.2220
 S  N  L  G  A  G  L  R  P  P  G  F  D  P  Y  L  Q  F  L  R         p.740

          .         .         .         .         .     | 16   .    g.47962
 GACTCTGTGTTTCTACGATTCCGTACAAGAGCTTACCGGAGAGCAGCTGAAAAG | TGGGAA    c.2280
 D  S  V  F  L  R  F  R  T  R  A  Y  R  R  A  A  E  K   | W  E      p.760

          .         .         .         .         .         .       g.48022
 GTTGCTGAGGTGGTTTTGGAGGTGTTTTATAAATTGCTCAGAGATTATGAGCCTCAGCTT       c.2340
 V  A  E  V  V  L  E  V  F  Y  K  L  L  R  D  Y  E  P  Q  L         p.780

          .         .         .     | 17   .         .         .    g.48482
 GAAGATTTTGTAGACCAGTTTGTGGAACTACAAG | GAGAAGAAATCATAGCCTATAAGCCA    c.2400
 E  D  F  V  D  Q  F  V  E  L  Q  G |   E  E  I  I  A  Y  K  P      p.800

          .         .         .         .         .         .       g.48542
 CCTGGATTTAGTCTGATGTATCATCTGCTGAATGAGTCACCAATGTTGGAGCTTGCTCTC       c.2460
 P  G  F  S  L  M  Y  H  L  L  N  E  S  P  M  L  E  L  A  L         p.820

          .         .         .         .         .   | 18     .    g.49899
 AGTTTACTGGAAGAAGGAGTTAAGCAGCTTGACACCTATGCCCCCTTTCCTG | GGAAAAAA    c.2520
 S  L  L  E  E  G  V  K  Q  L  D  T  Y  A  P  F  P  G |   K  K      p.840

          .         .         .         .         .         .       g.49959
 CACCTGGAGAAAGCAGTACAGCATTGCCTTGCACTTCTCAATCTTACTCTGCAAAAGGAA       c.2580
 H  L  E  K  A  V  Q  H  C  L  A  L  L  N  L  T  L  Q  K  E         p.860

          .         .         .         .         .         .       g.50019
 AATCTTTTTATGGACCTTCTAAGAGAGAGTCAACTGGCTCTAATAGTCTGTCCTTTAGAA       c.2640
 N  L  F  M  D  L  L  R  E  S  Q  L  A  L  I  V  C  P  L  E         p.880

          .         .         .         .         .         .       g.50079
 CAGCTTTTGCAGGGAATTAATCCCAGAACTAAGAAGGCAGATAATGTGGTAAACATTGCC       c.2700
 Q  L  L  Q  G  I  N  P  R  T  K  K  A  D  N  V  V  N  I  A         p.900

    | 19     .         .         .         .         .         .    g.51484
 AG | ATACCTATATCATGGCAATACTAATCCAGAATTGGCTTTTGAAAGTGCCAAGATCCTC    c.2760
 R  |  Y  L  Y  H  G  N  T  N  P  E  L  A  F  E  S  A  K  I  L      p.920

          .         .         .         .         .         .       g.51544
 TGTTGTATCTCTTGCAACTCTAATATTCAGATAAAGTTGGTTGGAGATTTCACACATGAC       c.2820
 C  C  I  S  C  N  S  N  I  Q  I  K  L  V  G  D  F  T  H  D         p.940

     | 20    .         .         .         .         .         .    g.53288
 CAG | AGTATAAGTCAGAAACTAATGGCTGGATTTGTGGAGTGTTTGGATTGTGAAGATGCA    c.2880
 Q   | S  I  S  Q  K  L  M  A  G  F  V  E  C  L  D  C  E  D  A      p.960

          .         .      | 21  .         .         .         .    g.53872
 GAAGAATTTGTACGTCTGGAAGAGG | GATCAGAACTTGAAAAGAAATTAGTTGCAATTCGT    c.2940
 E  E  F  V  R  L  E  E  G |   S  E  L  E  K  K  L  V  A  I  R      p.980

          .         .         .         .         .         .       g.53932
 CATGAAACAAGAATCCACATCTTGAATCTTCTCATTACCTCTCTGGAATGCAATCCACCC       c.3000
 H  E  T  R  I  H  I  L  N  L  L  I  T  S  L  E  C  N  P  P         p.1000

          .         .         .         .         .         .       g.53992
 AATCTTGCTCTCTACCTGTTGGGCTTTGAATTGAAAAAACCTGTCAGTACTACAAACCTA       c.3060
 N  L  A  L  Y  L  L  G  F  E  L  K  K  P  V  S  T  T  N  L         p.1020

          . | 22       .         .         .         .         .    g.54383
 CAAGATCCAG | GAGTGTTAGGTTGCCCTCGGACATGCCTTCACGCCATTCTAAACATCTTG    c.3120
 Q  D  P  G |   V  L  G  C  P  R  T  C  L  H  A  I  L  N  I  L      p.1040

          .         .         .         .         .         .       g.54443
 GAGAAAGGAACGGAAGGGAGAACAGGCCCAGTGGCGGTGCGAGAATCTCCTCAGCTGGCT       c.3180
 E  K  G  T  E  G  R  T  G  P  V  A  V  R  E  S  P  Q  L  A         p.1060

          .      | 23  .         .         .         .         .    g.61290
 GAGCTATGTTACCAG | GTCATATATCAGTTATGTGCATGCTCTGATACATCTGGTCCTACT    c.3240
 E  L  C  Y  Q   | V  I  Y  Q  L  C  A  C  S  D  T  S  G  P  T      p.1080

          .         .         .         .         .         .       g.61350
 ATGAGGTACTTGAGAACCAGCCAGGATTTCTTATTTTCCCAGTTGCAGTATCTACCATTT       c.3300
 M  R  Y  L  R  T  S  Q  D  F  L  F  S  Q  L  Q  Y  L  P  F         p.1100

          . | 24       .         .         .         .         .    g.63052
 TCTAACAAAG | AATATGAAATATCTATGCTGAACCAGATGTCATGGCTTATGAAAACTGCC    c.3360
 S  N  K  E |   Y  E  I  S  M  L  N  Q  M  S  W  L  M  K  T  A      p.1120

          .         .         .         .         .         .       g.63112
 TCAATAGAGCTAAGGGTAACCTCTCTGAATCGTCAGCGGTCACATACCCAGAGGCTCCTA       c.3420
 S  I  E  L  R  V  T  S  L  N  R  Q  R  S  H  T  Q  R  L  L         p.1140

          .         .         .         . | 25       .         .    g.63761
 CACCTCTTACTGGATGACATGCCAGTGAAACCATACTCAG | ATGGTGAAGGAGGAATAGAA    c.3480
 H  L  L  L  D  D  M  P  V  K  P  Y  S  D |   G  E  G  G  I  E      p.1160

          .         .         .         .         .   | 26     .    g.64184
 GATGAAAACAGGTCTGTTTCTGGGTTCCTTCACTTTGACACTGCTACAAAAG | TACGTCGA    c.3540
 D  E  N  R  S  V  S  G  F  L  H  F  D  T  A  T  K  V |   R  R      p.1180

          .         .         .         .         .         .       g.64244
 AAAATTCTAAATATTCTTGACTCGATTGACTTCAGTCAGGAGATCCCTGAGCCTTTGCAG       c.3600
 K  I  L  N  I  L  D  S  I  D  F  S  Q  E  I  P  E  P  L  Q         p.1200

          .         .         .         .         .         .       g.64304
 TTGGATTTTTTTGATCGGGCCCAGATTGAACAAGTTATTGCTAACTGTGAACACAAGAAT       c.3660
 L  D  F  F  D  R  A  Q  I  E  Q  V  I  A  N  C  E  H  K  N         p.1220

          .         .         . | 27       .         .         .    g.64718
 TTACGGGGACAGACAGTCTGCAATGTCAAG | CTTCTTCATAGGGTTCTTGTAGCTGAAGTA    c.3720
 L  R  G  Q  T  V  C  N  V  K   | L  L  H  R  V  L  V  A  E  V      p.1240

          .         .         .         .         .  | 28      .    g.65507
 AATGCCCTTCAGGGTATGGCAGCCATAGGACAGAGACCTCTACTAATGGAG | GAAATCAGC    c.3780
 N  A  L  Q  G  M  A  A  I  G  Q  R  P  L  L  M  E   | E  I  S      p.1260

          .         .         .         .         .         .       g.65567
 ACTGTACTTCAGTATGTGGTAGGAAGAAATAAATTGCTGCAGTGTCTTCATGCAAAACGT       c.3840
 T  V  L  Q  Y  V  V  G  R  N  K  L  L  Q  C  L  H  A  K  R         p.1280

          .         .         .         .         .         .       g.65627
 CATGCTCTGGAGTCGTGGAGGCAACTAGTAGAAATTATACTGACAGCTTGTCCCCAGGAC       c.3900
 H  A  L  E  S  W  R  Q  L  V  E  I  I  L  T  A  C  P  Q  D         p.1300

          .         .         .         .         .         .       g.65687
 CTCATTCAGGCAGAGGATCGACAACTGATTATTCGTGATATTTTACAAGATGTGCATGAT       c.3960
 L  I  Q  A  E  D  R  Q  L  I  I  R  D  I  L  Q  D  V  H  D         p.1320

     | 29    .         .         .         .         .         .    g.66566
 AAG | ATACTGGATGATGAAGCTGCGCAAGAGTTAATGCCTGTGGTCGCCGGGGCAGTGTTC    c.4020
 K   | I  L  D  D  E  A  A  Q  E  L  M  P  V  V  A  G  A  V  F      p.1340

          .         .         .         .         .         .       g.66626
 ACACTGACTGCTCACCTAAGCCAGGCCGTCCTCACTGAACAGAAGCAAACATCAGTCTTG       c.4080
 T  L  T  A  H  L  S  Q  A  V  L  T  E  Q  K  Q  T  S  V  L         p.1360

          .         .         .         .         .         .       g.66686
 GGACCAGCAGAGGCCCATTACGCTTTTATGCTTGATAGTTGCTTCACCTCACCTCCTCCT       c.4140
 G  P  A  E  A  H  Y  A  F  M  L  D  S  C  F  T  S  P  P  P         p.1380

          .         .         .         .         .         .       g.66746
 GAAGAGAACCCATTAGTGGGTTTTGCTTCTATTGGAGATTCTTCACTTTACATCATATTG       c.4200
 E  E  N  P  L  V  G  F  A  S  I  G  D  S  S  L  Y  I  I  L         p.1400

          .         .         .  | 30      .         .         .    g.66905
 AAGAAACTGTTAGACTTCATTTTGAAGACAG | GTGGTGGATTCCAACGAGTGAGGACTCAC    c.4260
 K  K  L  L  D  F  I  L  K  T  G |   G  G  F  Q  R  V  R  T  H      p.1420

          .         .         .         .         .         .       g.66965
 TTGTATGGCTCTCTGCTTTATTACTTACAGATTGCCCAGAGACCTGATGAACCAGACACC       c.4320
 L  Y  G  S  L  L  Y  Y  L  Q  I  A  Q  R  P  D  E  P  D  T         p.1440

          . | 31       .         .         .         .         .    g.69913
 TTAGAAGCAG | CCAAGAAAACCATGTGGGAAAGGCTGACAGCCCCTGAAGATGTATTTAGC    c.4380
 L  E  A  A |   K  K  T  M  W  E  R  L  T  A  P  E  D  V  F  S      p.1460

          .         .         .         .         .         .       g.69973
 AAATTACAGCGAGAAAACATAGCCATTATTGAAAGTTATGGCGCCGCCCTCATGGAAGTG       c.4440
 K  L  Q  R  E  N  I  A  I  I  E  S  Y  G  A  A  L  M  E  V         p.1480

          .         .         .          | 32        .         .    g.72271
 GTCTGTCGAGATGCTTGTGATGGTCATGAGATTGGAAGG | ATGCTGGCCCTGGCTCTACTT    c.4500
 V  C  R  D  A  C  D  G  H  E  I  G  R   | M  L  A  L  A  L  L      p.1500

          .         .         .         .         .         .       g.72331
 GATAGAATTGTCTCCGTGGATAAACAGCAGCAGTGGCTTTTGTATCTTTCTAACAGTGGC       c.4560
 D  R  I  V  S  V  D  K  Q  Q  Q  W  L  L  Y  L  S  N  S  G         p.1520

          .         .         .         .         .         .       g.72391
 TACTTGAAGGTCCTCGTAGACAGCTTGGTAGAAGATGACCGTACTTTGCAGAGCTTACTC       c.4620
 Y  L  K  V  L  V  D  S  L  V  E  D  D  R  T  L  Q  S  L  L         p.1540

          .         .         .         .         .  | 33      .    g.73335
 ACCCCACAGCCTCCCCTTTTAAAAGCACTTTATACTTATGAATCTAAAATG | GCATTTCTC    c.4680
 T  P  Q  P  P  L  L  K  A  L  Y  T  Y  E  S  K  M   | A  F  L      p.1560

          .         .         .         .         .         .       g.73395
 ACAAGAGTGGCAAAGATACAGCAGGGTGCATTAGAGCTGCTAAGATCAGGGGTGATTGTG       c.4740
 T  R  V  A  K  I  Q  Q  G  A  L  E  L  L  R  S  G  V  I  V         p.1580

          .         .         .         .         .    | 34    .    g.75066
 AGACTAGCTCAATGCCAAGTCTATGACATGCGCCCAGAAACGGACCCGCAGAG | CATGTTT    c.4800
 R  L  A  Q  C  Q  V  Y  D  M  R  P  E  T  D  P  Q  S  |  M  F      p.1600

          .         .         .         .         .         .       g.75126
 GGCATGAGAGACCCTCCAATGTTCATCCCTACCCCAGTGGATCGCTACCGCCAGATTCTC       c.4860
 G  M  R  D  P  P  M  F  I  P  T  P  V  D  R  Y  R  Q  I  L         p.1620

          .         .         .         .         .         .       g.75186
 CTCCCAGCTCTCCAGCTGTGCCAGGTCATCCTCACATCTAGTATGGCCCAGCACTTGCAG       c.4920
 L  P  A  L  Q  L  C  Q  V  I  L  T  S  S  M  A  Q  H  L  Q         p.1640

          .   | 35     .         .         .         .         .    g.77478
 GCAGCAGGGCAG | GTATTGCAGTTTCTTATTTCACATTCTGATACCATACAAGCAATTCTG    c.4980
 A  A  G  Q   | V  L  Q  F  L  I  S  H  S  D  T  I  Q  A  I  L      p.1660

          .         .         .         .         .         .       g.77538
 CGCTGTCAGGATGTTAGTGCTGGGTCTTTGCAGGAATTGGCTCTGCTGACAGGAATTATA       c.5040
 R  C  Q  D  V  S  A  G  S  L  Q  E  L  A  L  L  T  G  I  I         p.1680

          .          | 36        .         .         .         .    g.82708
 AGTAAAGCAGCACTTCCTG | GAATATTAAGTGAACTTGACGTTGATGTAAATGAAGGGTCT    c.5100
 S  K  A  A  L  P  G |   I  L  S  E  L  D  V  D  V  N  E  G  S      p.1700

          .         .         .       | 37 .         .         .    g.85041
 CTAATGGAGCTACAGGGACATATTGGAAGATTCCAG | CGCCAGTGCTTAGGACTACTAAGT    c.5160
 L  M  E  L  Q  G  H  I  G  R  F  Q   | R  Q  C  L  G  L  L  S      p.1720

          .         .         .         .         .         .       g.85101
 CGCTTTGGTGGCTCTGACAGACTGCGTCAGTTTAAATTTCAAGACGATAATGTGGAGGGA       c.5220
 R  F  G  G  S  D  R  L  R  Q  F  K  F  Q  D  D  N  V  E  G         p.1740

          .         .         .         .      | 38  .         .    g.85658
 GATAAAGTAAGCAAGAAAGATGAGATTGAACTGGCTATGCAGCAG | ATTTGTGCCAATGTA    c.5280
 D  K  V  S  K  K  D  E  I  E  L  A  M  Q  Q   | I  C  A  N  V      p.1760

          .         .         .         .         .         .       g.85718
 ATGGAATATTGCCAGTCACTCATGTTACAGAGTTCCCCTACCTTCCAGCATGCTGTGTGT       c.5340
 M  E  Y  C  Q  S  L  M  L  Q  S  S  P  T  F  Q  H  A  V  C         p.1780

          .         .         .         .         .   | 39     .    g.90286
 CTCTTCACTCCTAGCCTTTCAGAAACAGTTAATAGAGATGGACCGCGGCAAG | ATACCCAA    c.5400
 L  F  T  P  S  L  S  E  T  V  N  R  D  G  P  R  Q  D |   T  Q      p.1800

          .         .         .         .         .         .       g.90346
 GCTCCAGTGGTTCCATACTGGCGCCTGCCTGGTTTAGGCATTATCATCTACCTGCTGAAA       c.5460
 A  P  V  V  P  Y  W  R  L  P  G  L  G  I  I  I  Y  L  L  K         p.1820

          .         .         .         .         .         .       g.90406
 CAGAGTGCTAATGATTTCTTCAGCTATTATGACAGTCATCGACAGAGTGTCAGCAAGCTA       c.5520
 Q  S  A  N  D  F  F  S  Y  Y  D  S  H  R  Q  S  V  S  K  L         p.1840

          .         .         .          | 40        .         .    g.92002
 CAAAATGTAGAGCAGCTTCCCCCAGATGAGATAAAAGAG | TTGTGTCAGTCTGTGATGCCT    c.5580
 Q  N  V  E  Q  L  P  P  D  E  I  K  E   | L  C  Q  S  V  M  P      p.1860

          .         .         .         .         .         .       g.92062
 GCTGGTGTTGATAAAATCTCCACTGCTCAGAAATATGTTCTAGCAAGACGGCGCTTGGTG       c.5640
 A  G  V  D  K  I  S  T  A  Q  K  Y  V  L  A  R  R  R  L  V         p.1880

          .         .         .         .    | 41    .         .    g.92571
 AAGGTGATCAACAATCGAGCTAAACTGCTTTCCCTTTGTTCTT | TTATCATAGAGACCTGC    c.5700
 K  V  I  N  N  R  A  K  L  L  S  L  C  S  F |   I  I  E  T  C      p.1900

          .         .         .         .         .         .       g.92631
 CTATTTATTCTTTGGCGCCATCTGGAGTACTACTTGTTACATTGCATGCCCACGGATTCT       c.5760
 L  F  I  L  W  R  H  L  E  Y  Y  L  L  H  C  M  P  T  D  S         p.1920

          .         .         .         .         .   | 42     .    g.93252
 CAAGATTCCTTATTTGCCTCGAGAACCTTGTTTAAAAGCAGAAGACTGCAAG | ATTCCTTC    c.5820
 Q  D  S  L  F  A  S  R  T  L  F  K  S  R  R  L  Q  D |   S  F      p.1940

          .         .         .         .         .         .       g.93312
 GCCTCAGAAACCAATCTAGATTTTAGAAGTGGGCTGGCTATAGTGAGCCAACATGATTTA       c.5880
 A  S  E  T  N  L  D  F  R  S  G  L  A  I  V  S  Q  H  D  L         p.1960

        | 43 .         .         .         .         .         .    g.95544
 GACCAG | CTTCAGGCTGATGCAATCAACGCTTTTGGAGAATCACTACAAAAGAAACTTCTG    c.5940
 D  Q   | L  Q  A  D  A  I  N  A  F  G  E  S  L  Q  K  K  L  L      p.1980

          .         .         .         .         .         .       g.95604
 GACATTGAAGGATTATATTCAAAAGTTCGATCTCGATATAGTTTCATACAGGCTCTTGTC       c.6000
 D  I  E  G  L  Y  S  K  V  R  S  R  Y  S  F  I  Q  A  L  V         p.2000

          .         .         .                                     g.95643
 AGACGTATCCGTGGCCTCTTGAGGATATCAAGGAACTGA                            c.6039
 R  R  I  R  G  L  L  R  I  S  R  N  X                              p.2012

          .         .         .         .         .         .       g.95703
 gagcccgtgcttatgctcttctatgagagagatgaattggggagaattgtctccatttta       c.*60

          .         .         .         .         .         .       g.95763
 tagattagtttctttctaaattatgaccaaaaatattttgctatttctttctttgtatat       c.*120

          .         .         .         .         .         .       g.95823
 ggacatcttttctgtaaacttcttcccctagttccatcctcactagtaaaaaataaatac       c.*180

          .                                                         g.95840
 tttttaaaaaaacaaaa                                                  c.*197

 (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 Nucleoporin 205kDa 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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