desmoplakin (DSP) - coding DNA reference sequence

(used for variant description)

(last modified January 27, 2016)


This file was created to facilitate the description of sequence variants on transcript NM_004415.2 in the DSP gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008803.1, covering DSP transcript NM_004415.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5039
                      ccgaccaacaccaacacccagctccgacgcagctcctct       c.-241

 .         .         .         .         .         .                g.5099
 gcgcccttgccgccctccgagccacagctttcctcccgctcctgcccccggcccgtcgcc       c.-181

 .         .         .         .         .         .                g.5159
 gtctccgcgctcgcagcggcctcgggagggcccaggtagcgagcagcgacctcgcgagcc       c.-121

 .         .         .         .         .         .                g.5219
 ttccgcactcccgcccggttccccggccgtccgcctatccttggccccctccgctttctc       c.-61

 .         .         .         .         .         .                g.5279
 cgcgccggcccgcctcgcttatgcctcggcgctgagccgctctcccgattgcccgccgac       c.-1

          .         .         .         .         .         .       g.5339
 ATGAGCTGCAACGGAGGCTCCCACCCGCGGATCAACACTCTGGGCCGCATGATCCGCGCC       c.60
 M  S  C  N  G  G  S  H  P  R  I  N  T  L  G  R  M  I  R  A         p.20

          .         .         .         .         .         .       g.5399
 GAGTCTGGCCCGGACCTGCGCTACGAGGTGACCAGCGGCGGCGGGGGCACCAGCAGGATG       c.120
 E  S  G  P  D  L  R  Y  E  V  T  S  G  G  G  G  T  S  R  M         p.40

          .         .         .         .         . | 02       .    g.19091
 TACTATTCTCGGCGCGGCGTGATCACCGACCAGAACTCGGACGGCTACTG | TCAAACCGGC    c.180
 Y  Y  S  R  R  G  V  I  T  D  Q  N  S  D  G  Y  C  |  Q  T  G      p.60

          .         .         .         .         .         .       g.19151
 ACGATGTCCAGGCACCAGAACCAGAACACCATCCAGGAGCTGCTGCAGAACTGCTCCGAC       c.240
 T  M  S  R  H  Q  N  Q  N  T  I  Q  E  L  L  Q  N  C  S  D         p.80

          .         .         .    | 03    .         .         .    g.21506
 TGCTTGATGCGAGCAGAGCTCATCGTGCAGCCT | GAATTGAAGTATGGAGATGGAATACAA    c.300
 C  L  M  R  A  E  L  I  V  Q  P   | E  L  K  Y  G  D  G  I  Q      p.100

          .         .         .         .         .         .       g.21566
 CTGACTCGGAGTCGAGAATTGGATGAGTGTTTTGCCCAGGCCAATGACCAAATGGAAATC       c.360
 L  T  R  S  R  E  L  D  E  C  F  A  Q  A  N  D  Q  M  E  I         p.120

          .         .         .         .         .         .       g.21626
 CTCGACAGCTTGATCAGAGAGATGCGGCAGATGGGCCAGCCCTGTGATGCTTACCAGAAA       c.420
 L  D  S  L  I  R  E  M  R  Q  M  G  Q  P  C  D  A  Y  Q  K         p.140

    | 04     .         .         .         .         .         .    g.22647
 AG | GCTTCTTCAGCTCCAAGAGCAAATGCGAGCCCTTTATAAAGCCATCAGTGTCCCTCGA    c.480
 R  |  L  L  Q  L  Q  E  Q  M  R  A  L  Y  K  A  I  S  V  P  R      p.160

          .         .         .         .         .         .       g.22707
 GTCCGCAGGGCCAGCTCCAAGGGTGGTGGAGGCTACACTTGTCAGAGTGGCTCTGGCTGG       c.540
 V  R  R  A  S  S  K  G  G  G  G  Y  T  C  Q  S  G  S  G  W         p.180

          .         .         .         .         .        | 05.    g.26018
 GATGAGTTCACCAAACATGTCACCAGTGAATGTTTGGGGTGGATGAGGCAGCAAAGG | GCG    c.600
 D  E  F  T  K  H  V  T  S  E  C  L  G  W  M  R  Q  Q  R   | A      p.200

          .         .         .         .         .         .       g.26078
 GAGATGGACATGGTGGCCTGGGGTGTGGACCTGGCCTCAGTGGAGCAGCACATTAACAGC       c.660
 E  M  D  M  V  A  W  G  V  D  L  A  S  V  E  Q  H  I  N  S         p.220

          .         .         .         .         .         .       g.26138
 CACCGGGGCATCCACAACTCCATCGGCGACTATCGCTGGCAGCTGGACAAAATCAAAGCC       c.720
 H  R  G  I  H  N  S  I  G  D  Y  R  W  Q  L  D  K  I  K  A         p.240

        | 06 .         .         .         .         .        | 07. g.28725
 GACCTG | CGCGAGAAATCTGCGATCTACCAGTTGGAGGAGGAGTATGAAAACCTGCTG | AAA c.780
 D  L   | R  E  K  S  A  I  Y  Q  L  E  E  E  Y  E  N  L  L   | K   p.260

          .         .         .         .         .         .       g.28785
 GCGTCCTTTGAGAGGATGGATCACCTGCGACAGCTGCAGAACATCATTCAGGCCACGTCC       c.840
 A  S  F  E  R  M  D  H  L  R  Q  L  Q  N  I  I  Q  A  T  S         p.280

          .         .         .         .         .         .       g.28845
 AGGGAGATCATGTGGATCAATGACTGCGAGGAGGAGGAGCTGCTGTACGACTGGAGCGAC       c.900
 R  E  I  M  W  I  N  D  C  E  E  E  E  L  L  Y  D  W  S  D         p.300

          .         .         .          | 08        .         .    g.29761
 AAGAACACCAACATCGCTCAGAAACAGGAGGCCTTCTCC | ATACGCATGAGTCAACTGGAA    c.960
 K  N  T  N  I  A  Q  K  Q  E  A  F  S   | I  R  M  S  Q  L  E      p.320

          .         .         .         .         .         .       g.29821
 GTTAAAGAAAAAGAGCTCAATAAGCTGAAACAAGAAAGTGACCAACTTGTCCTCAATCAG       c.1020
 V  K  E  K  E  L  N  K  L  K  Q  E  S  D  Q  L  V  L  N  Q         p.340

          .         .     | 09   .         .         .         .    g.30753
 CATCCAGCTTCAGACAAAATTGAG | GCCTATATGGACACTCTGCAGACGCAGTGGAGTTGG    c.1080
 H  P  A  S  D  K  I  E   | A  Y  M  D  T  L  Q  T  Q  W  S  W      p.360

          .         .         .         .         .         .       g.30813
 ATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAG       c.1140
 I  L  Q  I  T  K  C  I  D  V  H  L  K  E  N  A  A  Y  F  Q         p.380

  | 10       .         .         .         .         .         .    g.31204
  | TTTTTTGAAGAGGCGCAGTCTACTGAAGCATACCTGAAGGGGCTCCAGGACTCCATCAGG    c.1200
  | F  F  E  E  A  Q  S  T  E  A  Y  L  K  G  L  Q  D  S  I  R      p.400

          .         .         .         .         .         .       g.31264
 AAGAAGTACCCCTGCGACAAGAACATGCCCCTGCAGCACCTGCTGGAACAGATCAAGGAG       c.1260
 K  K  Y  P  C  D  K  N  M  P  L  Q  H  L  L  E  Q  I  K  E         p.420

        | 11 .         .         .         .         .         .    g.31854
 CTGGAG | AAAGAACGAGAGAAAATCCTTGAATACAAGCGTCAGGTGCAGAACTTGGTAAAC    c.1320
 L  E   | K  E  R  E  K  I  L  E  Y  K  R  Q  V  Q  N  L  V  N      p.440

          .         .         .         .         .         .       g.31914
 AAGTCTAAGAAGATTGTACAGCTGAAGCCTCGTAACCCAGACTACAGAAGCAATAAACCC       c.1380
 K  S  K  K  I  V  Q  L  K  P  R  N  P  D  Y  R  S  N  K  P         p.460

          .         .         .          | 12        .         .    g.32570
 ATTATTCTCAGAGCTCTCTGTGACTACAAACAAGATCAG | AAAATCGTGCATAAGGGGGAT    c.1440
 I  I  L  R  A  L  C  D  Y  K  Q  D  Q   | K  I  V  H  K  G  D      p.480

          .         .         .         .         .         .       g.32630
 GAGTGTATCCTGAAGGACAACAACGAGCGCAGCAAGTGGTACGTGACGGGCCCGGGAGGC       c.1500
 E  C  I  L  K  D  N  N  E  R  S  K  W  Y  V  T  G  P  G  G         p.500

          .         .         .         .         .         .       g.32690
 GTTGACATGCTTGTTCCCTCTGTGGGGCTGATCATCCCTCCTCCGAACCCACTGGCCGTG       c.1560
 V  D  M  L  V  P  S  V  G  L  I  I  P  P  P  N  P  L  A  V         p.520

          .     | 13   .         .         .         .         .    g.33846
 GACCTCTCTTGCAA | GATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTC    c.1620
 D  L  S  C  K  |  I  E  Q  Y  Y  E  A  I  L  A  L  W  N  Q  L      p.540

          .         .         .         .         .         .       g.33906
 TACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATC       c.1680
 Y  I  N  M  K  S  L  V  S  W  H  Y  C  M  I  D  I  E  K  I         p.560

          .         .  | 14      .         .         .         .    g.34785
 AGGGCCATGACAATCGCCAAG | CTGAAAACAATGCGGCAGGAAGATTACATGAAGACGATA    c.1740
 R  A  M  T  I  A  K   | L  K  T  M  R  Q  E  D  Y  M  K  T  I      p.580

          .         .         .         .         .         .       g.34845
 GCCGACCTTGAGTTACATTACCAAGAGTTCATCAGAAATAGCCAAGGCTCAGAGATGTTT       c.1800
 A  D  L  E  L  H  Y  Q  E  F  I  R  N  S  Q  G  S  E  M  F         p.600

          .         .         .         .         .         .       g.34905
 GGAGATGATGACAAGCGGAAAATACAGTCTCAGTTCACCGATGCCCAGAAGCATTACCAG       c.1860
 G  D  D  D  K  R  K  I  Q  S  Q  F  T  D  A  Q  K  H  Y  Q         p.620

          .         .         .         .    | 15    .         .    g.35222
 ACCCTGGTCATTCAGCTCCCTGGCTATCCCCAGCACCAGACAG | TGACCACAACTGAAATC    c.1920
 T  L  V  I  Q  L  P  G  Y  P  Q  H  Q  T  V |   T  T  T  E  I      p.640

          .         .         .         .         .         .       g.35282
 ACTCATCATGGAACCTGCCAAGATGTCAACCATAATAAAGTAATTGAAACCAACAGAGAA       c.1980
 T  H  H  G  T  C  Q  D  V  N  H  N  K  V  I  E  T  N  R  E         p.660

          .         .         .         .         .         .       g.35342
 AATGACAAGCAAGAAACATGGATGCTGATGGAGCTGCAGAAGATTCGCAGGCAGATAGAG       c.2040
 N  D  K  Q  E  T  W  M  L  M  E  L  Q  K  I  R  R  Q  I  E         p.680

          .         .         .         .         .         .       g.35402
 CACTGCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGGTCTTCTCAC       c.2100
 H  C  E  G  R  M  T  L  K  N  L  P  L  A  D  Q  G  S  S  H         p.700

          .         .         . | 16       .         .         .    g.37479
 CACATCACAGTGAAAATTAACGAGCTTAAG | AGTGTGCAGAATGATTCACAAGCAATTGCT    c.2160
 H  I  T  V  K  I  N  E  L  K   | S  V  Q  N  D  S  Q  A  I  A      p.720

          .         .         .         .         .         .       g.37539
 GAGGTTCTCAACCAGCTTAAAGATATGCTTGCCAACTTCAGAGGTTCTGAAAAGTACTGC       c.2220
 E  V  L  N  Q  L  K  D  M  L  A  N  F  R  G  S  E  K  Y  C         p.740

          .         .         .         .         .         .       g.37599
 TATTTACAGAATGAAGTATTTGGACTATTTCAGAAACTGGAAAATATCAATGGTGTTACA       c.2280
 Y  L  Q  N  E  V  F  G  L  F  Q  K  L  E  N  I  N  G  V  T         p.760

          .        | 17.         .         .         .         .    g.38063
 GATGGCTACTTAAATAG | CTTATGCACAGTAAGGGCACTGCTCCAGGCTATTCTCCAAACA    c.2340
 D  G  Y  L  N  S  |  L  C  T  V  R  A  L  L  Q  A  I  L  Q  T      p.780

          .         .         .         .         .         .       g.38123
 GAAGACATGTTAAAGGTTTATGAAGCCAGGCTCACTGAGGAGGAAACTGTCTGCCTGGAC       c.2400
 E  D  M  L  K  V  Y  E  A  R  L  T  E  E  E  T  V  C  L  D         p.800

          .         .         .       | 18 .         .         .    g.38682
 CTGGATAAAGTGGAAGCTTACCGCTGTGGACTGAAG | AAAATAAAAAATGACTTGAACTTG    c.2460
 L  D  K  V  E  A  Y  R  C  G  L  K   | K  I  K  N  D  L  N  L      p.820

          .         .         .         .         .         .       g.38742
 AAGAAGTCGTTGTTGGCCACTATGAAGACAGAACTACAGAAAGCCCAGCAGATCCACTCT       c.2520
 K  K  S  L  L  A  T  M  K  T  E  L  Q  K  A  Q  Q  I  H  S         p.840

          .         .         .         .         .         .       g.38802
 CAGACTTCACAGCAGTATCCACTTTATGATCTGGACTTGGGCAAGTTCGGTGAAAAAGTC       c.2580
 Q  T  S  Q  Q  Y  P  L  Y  D  L  D  L  G  K  F  G  E  K  V         p.860

          .         .         .         .         . | 19       .    g.39667
 ACACAGCTGACAGACCGCTGGCAAAGGATAGATAAACAGATCGACTTTAG | GTTATGGGAC    c.2640
 T  Q  L  T  D  R  W  Q  R  I  D  K  Q  I  D  F  R  |  L  W  D      p.880

          .         .         .         .         .         .       g.39727
 CTGGAGAAACAAATCAAGCAATTGAGGAATTATCGTGATAACTATCAGGCTTTCTGCAAG       c.2700
 L  E  K  Q  I  K  Q  L  R  N  Y  R  D  N  Y  Q  A  F  C  K         p.900

          .         .         .         .         .         .       g.39787
 TGGCTCTATGATGCTAAACGCCGCCAGGATTCCTTAGAATCCATGAAATTTGGAGATTCC       c.2760
 W  L  Y  D  A  K  R  R  Q  D  S  L  E  S  M  K  F  G  D  S         p.920

          .         .         .    | 20    .         .         .    g.40349
 AACACAGTCATGCGGTTTTTGAATGAGCAGAAG | AACTTGCACAGTGAAATATCTGGCAAA    c.2820
 N  T  V  M  R  F  L  N  E  Q  K   | N  L  H  S  E  I  S  G  K      p.940

          .         .         .         .         .        | 21.    g.41145
 CGAGACAAATCAGAGGAAGTACAAAAAATTGCTGAACTTTGCGCCAATTCAATTAAG | GAT    c.2880
 R  D  K  S  E  E  V  Q  K  I  A  E  L  C  A  N  S  I  K   | D      p.960

          .         .         .         .         .         .       g.41205
 TATGAGCTCCAGCTGGCCTCATACACCTCAGGACTGGAAACTCTGCTGAACATACCTATC       c.2940
 Y  E  L  Q  L  A  S  Y  T  S  G  L  E  T  L  L  N  I  P  I         p.980

          .         .         .         .      | 22  .         .    g.41842
 AAGAGGACCATGATTCAGTCCCCTTCTGGGGTGATTCTGCAAGAG | GCTGCAGATGTTCAT    c.3000
 K  R  T  M  I  Q  S  P  S  G  V  I  L  Q  E   | A  A  D  V  H      p.1000

          .         .         .         .         .         .       g.41902
 GCTCGGTACATTGAACTACTTACAAGATCTGGAGACTATTACAGGTTCTTAAGTGAGATG       c.3060
 A  R  Y  I  E  L  L  T  R  S  G  D  Y  Y  R  F  L  S  E  M         p.1020

          .         .     | 23   .         .         .         .    g.42674
 CTGAAGAGTTTGGAAGATCTGAAG | CTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAG    c.3120
 L  K  S  L  E  D  L  K   | L  K  N  T  K  I  E  V  L  E  E  E      p.1040

          .         .         .         .         .         .       g.42734
 CTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAG       c.3180
 L  R  L  A  R  D  A  N  S  E  N  C  N  K  N  K  F  L  D  Q         p.1060

          .         .         .         .         .         .       g.42794
 AACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAG       c.3240
 N  L  Q  K  Y  Q  A  E  C  S  Q  F  K  A  K  L  A  S  L  E         p.1080

          .         .         .         .         .         .       g.42854
 GAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGC       c.3300
 E  L  K  R  Q  A  E  L  D  G  K  S  A  K  Q  N  L  D  K  C         p.1100

          .         .         .         .         .         .       g.42914
 TACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGAT       c.3360
 Y  G  Q  I  K  E  L  N  E  K  I  T  R  L  T  Y  E  I  E  D         p.1120

          .         .         .         .         .         .       g.42974
 GAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGAC       c.3420
 E  K  R  R  R  K  S  V  E  D  R  F  D  Q  Q  K  N  D  Y  D         p.1140

          .         .         .         .         .         .       g.43034
 CAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCT       c.3480
 Q  L  Q  K  A  R  Q  C  E  K  E  N  L  G  W  Q  K  L  E  S         p.1160

          .         .         .         .         .         .       g.43094
 GAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAA       c.3540
 E  K  A  I  K  E  K  E  Y  E  I  E  R  L  R  V  L  L  Q  E         p.1180

          .         .         .         .         .         .       g.43154
 GAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAAT       c.3600
 E  G  T  R  K  R  E  Y  E  N  E  L  A  K  V  R  N  H  Y  N         p.1200

          .         .         .         .         .         .       g.43214
 GAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACC       c.3660
 E  E  M  S  N  L  R  N  K  Y  E  T  E  I  N  I  T  K  T  T         p.1220

          .         .         .         .         .         .       g.43274
 ATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGAT       c.3720
 I  K  E  I  S  M  Q  K  E  D  D  S  K  N  L  R  N  Q  L  D         p.1240

          .         .         .         .         .         .       g.43334
 AGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATC       c.3780
 R  L  S  R  E  N  R  D  L  K  D  E  I  V  R  L  N  D  S  I         p.1260

          .         .         .         .         .         .       g.43394
 TTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGT       c.3840
 L  Q  A  T  E  Q  R  R  R  A  E  E  N  A  L  Q  Q  K  A  C         p.1280

          .         .         .         .         .         .       g.43454
 GGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAG       c.3900
 G  S  E  I  M  Q  K  K  Q  H  L  E  I  E  L  K  Q  V  M  Q         p.1300

          .         .         .         .         .         .       g.43514
 CAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATT       c.3960
 Q  R  S  E  D  N  A  R  H  K  Q  S  L  E  E  A  A  K  T  I         p.1320

          .         .         .         .         .         .       g.43574
 CAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGC       c.4020
 Q  D  K  N  K  E  I  E  R  L  K  A  E  F  Q  E  E  A  K  R         p.1340

          .         .         .         .         .         .       g.43634
 CGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATT       c.4080
 R  W  E  Y  E  N  E  L  S  K  V  R  N  N  Y  D  E  E  I  I         p.1360

          .         .         .         .         .         .       g.43694
 AGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTC       c.4140
 S  L  K  N  Q  F  E  T  E  I  N  I  T  K  T  T  I  H  Q  L         p.1380

          .         .         .         .         .         .       g.43754
 ACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGA       c.4200
 T  M  Q  K  E  E  D  T  S  G  Y  R  A  Q  I  D  N  L  T  R         p.1400

          .         .         .         .         .         .       g.43814
 GAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACA       c.4260
 E  N  R  S  L  S  E  E  I  K  R  L  K  N  T  L  T  Q  T  T         p.1420

          .         .         .         .         .         .       g.43874
 GAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTG       c.4320
 E  N  L  R  R  V  E  E  D  I  Q  Q  Q  K  A  T  G  S  E  V         p.1440

          .         .         .         .         .         .       g.43934
 TCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAG       c.4380
 S  Q  R  K  Q  Q  L  E  V  E  L  R  Q  V  T  Q  M  R  T  E         p.1460

          .         .         .         .         .         .       g.43994
 GAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAAC       c.4440
 E  S  V  R  Y  K  Q  S  L  D  D  A  A  K  T  I  Q  D  K  N         p.1480

          .         .         .         .         .         .       g.44054
 AAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTG       c.4500
 K  E  I  E  R  L  K  Q  L  I  D  K  E  T  N  D  R  K  C  L         p.1500

          .         .         .         .         .         .       g.44114
 GAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGT       c.4560
 E  D  E  N  A  R  L  Q  R  V  Q  Y  D  L  Q  K  A  N  S  S         p.1520

          .         .         .         .         .         .       g.44174
 GCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATC       c.4620
 A  T  E  T  I  N  K  L  K  V  Q  E  Q  E  L  T  R  L  R  I         p.1540

          .         .         .         .         .         .       g.44234
 GACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAG       c.4680
 D  Y  E  R  V  S  Q  E  R  T  V  K  D  Q  D  I  T  R  F  Q         p.1560

          .         .         .         .         .         .       g.44294
 AACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTG       c.4740
 N  S  L  K  E  L  Q  L  Q  K  Q  K  V  E  E  E  L  N  R  L         p.1580

          .         .         .         .         .         .       g.44354
 AAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGC       c.4800
 K  R  T  A  S  E  D  S  C  K  R  K  K  L  E  E  E  L  E  G         p.1600

          .         .         .         .         .         .       g.44414
 ATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAG       c.4860
 M  R  R  S  L  K  E  Q  A  I  K  I  T  N  L  T  Q  Q  L  E         p.1620

          .         .         .         .         .         .       g.44474
 CAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTG       c.4920
 Q  A  S  I  V  K  K  R  S  E  D  D  L  R  Q  Q  R  D  V  L         p.1640

          .         .         .         .         .         .       g.44534
 GATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAG       c.4980
 D  G  H  L  R  E  K  Q  R  T  Q  E  E  L  R  R  L  S  S  E         p.1660

          .         .         .         .         .         .       g.44594
 GTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTG       c.5040
 V  E  A  L  R  R  Q  L  L  Q  E  Q  E  S  V  K  Q  A  H  L         p.1680

          .         .         .         .         .         .       g.44654
 AGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAA       c.5100
 R  N  E  H  F  Q  K  A  I  E  D  K  S  R  S  L  N  E  S  K         p.1700

          .         .         .         .         .         .       g.44714
 ATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTA       c.5160
 I  E  I  E  R  L  Q  S  L  T  E  N  L  T  K  E  H  L  M  L         p.1720

          .         .         .         .         .         .       g.44774
 GAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAA       c.5220
 E  E  E  L  R  N  L  R  L  E  Y  D  D  L  R  R  G  R  S  E         p.1740

          .         .         .         .         .         .       g.44834
 GCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAAC       c.5280
 A  D  S  D  K  N  A  T  I  L  E  L  R  S  Q  L  Q  I  S  N         p.1760

          .         .         .         .         .         .       g.44894
 AACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTG       c.5340
 N  R  T  L  E  L  Q  G  L  I  N  D  L  Q  R  E  R  E  N  L         p.1780

          .         .         .          | 24        .         .    g.46026
 AGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAG | GCATCTAATAGGATTCAGGAA    c.5400
 R  Q  E  I  E  K  F  Q  K  Q  A  L  E   | A  S  N  R  I  Q  E      p.1800

          .         .         .         .         .         .       g.46086
 TCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAA       c.5460
 S  K  N  Q  C  T  Q  V  V  Q  E  R  E  S  L  L  V  K  I  K         p.1820

          .         .         .         .         .         .       g.46146
 GTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAA       c.5520
 V  L  E  Q  D  K  A  R  L  Q  R  L  E  D  E  L  N  R  A  K         p.1840

          .         .         .         .         .         .       g.46206
 TCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATT       c.5580
 S  T  L  E  A  E  T  R  V  K  Q  R  L  E  C  E  K  Q  Q  I         p.1860

          .         .         .         .         .         .       g.46266
 CAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAG       c.5640
 Q  N  D  L  N  Q  W  K  T  Q  Y  S  R  K  E  E  A  I  R  K         p.1880

          .         .         .         .         .         .       g.46326
 ATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAA       c.5700
 I  E  S  E  R  E  K  S  E  R  E  K  N  S  L  R  S  E  I  E         p.1900

          .         .         .         .         .         .       g.46386
 AGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCT       c.5760
 R  L  Q  A  E  I  K  R  I  E  E  R  C  R  R  K  L  E  D  S         p.1920

          .         .         .         .         .         .       g.46446
 ACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGAT       c.5820
 T  R  E  T  Q  S  Q  L  E  T  E  R  S  R  Y  Q  R  E  I  D         p.1940

          .         .         .         .         .         .       g.46506
 AAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACC       c.5880
 K  L  R  Q  R  P  Y  G  S  H  R  E  T  Q  T  E  C  E  W  T         p.1960

          .         .         .         .         .         .       g.46566
 GTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTC       c.5940
 V  D  T  S  K  L  V  F  D  G  L  R  K  K  V  T  A  M  Q  L         p.1980

          .         .         .         .         .         .       g.46626
 TATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCA       c.6000
 Y  E  C  Q  L  I  D  K  T  T  L  D  K  L  L  K  G  K  K  S         p.2000

          .         .         .         .         .         .       g.46686
 GTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGA       c.6060
 V  E  E  V  A  S  E  I  Q  P  F  L  R  G  A  G  S  I  A  G         p.2020

          .         .         .         .         .         .       g.46746
 GCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATC       c.6120
 A  S  A  S  P  K  E  K  Y  S  L  V  E  A  K  R  K  K  L  I         p.2040

          .         .         .         .         .         .       g.46806
 AGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGAT       c.6180
 S  P  E  S  T  V  M  L  L  E  A  Q  A  A  T  G  G  I  I  D         p.2060

          .         .         .         .         .         .       g.46866
 CCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTC       c.6240
 P  H  R  N  E  K  L  T  V  D  S  A  I  A  R  D  L  I  D  F         p.2080

          .         .         .         .         .         .       g.46926
 GATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTT       c.6300
 D  D  R  Q  Q  I  Y  A  A  E  K  A  I  T  G  F  D  D  P  F         p.2100

          .         .         .         .         .         .       g.46986
 TCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACC       c.6360
 S  G  K  T  V  S  V  S  E  A  I  K  K  N  L  I  D  R  E  T         p.2120

          .         .         .         .         .         .       g.47046
 GGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGT       c.6420
 G  M  R  L  L  E  A  Q  I  A  S  G  G  V  V  D  P  V  N  S         p.2140

          .         .         .         .         .         .       g.47106
 GTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGA       c.6480
 V  F  L  P  K  D  V  A  L  A  R  G  L  I  D  R  D  L  Y  R         p.2160

          .         .         .         .         .         .       g.47166
 TCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAG       c.6540
 S  L  N  D  P  R  D  S  Q  K  N  F  V  D  P  V  T  K  K  K         p.2180

          .         .         .         .         .         .       g.47226
 GTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTG       c.6600
 V  S  Y  V  Q  L  K  E  R  C  R  I  E  P  H  T  G  L  L  L         p.2200

          .         .         .         .         .         .       g.47286
 CTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACT       c.6660
 L  S  V  Q  K  R  S  M  S  F  Q  G  I  R  Q  P  V  T  V  T         p.2220

          .         .         .         .         .         .       g.47346
 GAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAG       c.6720
 E  L  V  D  S  G  I  L  R  P  S  T  V  N  E  L  E  S  G  Q         p.2240

          .         .         .         .         .         .       g.47406
 ATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATA       c.6780
 I  S  Y  D  E  V  G  E  R  I  K  D  F  L  Q  G  S  S  C  I         p.2260

          .         .         .         .         .         .       g.47466
 GCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATT       c.6840
 A  G  I  Y  N  E  T  T  K  Q  K  L  G  I  Y  E  A  M  K  I         p.2280

          .         .         .         .         .         .       g.47526
 GGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTT       c.6900
 G  L  V  R  P  G  T  A  L  E  L  L  E  A  Q  A  A  T  G  F         p.2300

          .         .         .         .         .         .       g.47586
 ATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTG       c.6960
 I  V  D  P  V  S  N  L  R  L  P  V  E  E  A  Y  K  R  G  L         p.2320

          .         .         .         .         .         .       g.47646
 GTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAAT       c.7020
 V  G  I  E  F  K  E  K  L  L  S  A  E  R  A  V  T  G  Y  N         p.2340

          .         .         .         .         .         .       g.47706
 GATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAA       c.7080
 D  P  E  T  G  N  I  I  S  L  F  Q  A  M  N  K  E  L  I  E         p.2360

          .         .         .         .         .         .       g.47766
 AAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCA       c.7140
 K  G  H  G  I  R  L  L  E  A  Q  I  A  T  G  G  I  I  D  P         p.2380

          .         .         .         .         .         .       g.47826
 AAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAA       c.7200
 K  E  S  H  R  L  P  V  D  I  A  Y  K  R  G  Y  F  N  E  E         p.2400

          .         .         .         .         .         .       g.47886
 CTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACT       c.7260
 L  S  E  I  L  S  D  P  S  D  D  T  K  G  F  F  D  P  N  T         p.2420

          .         .         .         .         .         .       g.47946
 GAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGG       c.7320
 E  E  N  L  T  Y  L  Q  L  K  E  R  C  I  K  D  E  E  T  G         p.2440

          .         .         .         .         .         .       g.48006
 CTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACC       c.7380
 L  C  L  L  P  L  K  E  K  K  K  Q  V  Q  T  S  Q  K  N  T         p.2460

          .         .         .         .         .         .       g.48066
 CTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAG       c.7440
 L  R  K  R  R  V  V  I  V  D  P  E  T  N  K  E  M  S  V  Q         p.2480

          .         .         .         .         .         .       g.48126
 GAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAA       c.7500
 E  A  Y  K  K  G  L  I  D  Y  E  T  F  K  E  L  C  E  Q  E         p.2500

          .         .         .         .         .         .       g.48186
 TGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTA       c.7560
 C  E  W  E  E  I  T  I  T  G  S  D  G  S  T  R  V  V  L  V         p.2520

          .         .         .         .         .         .       g.48246
 GATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGAC       c.7620
 D  R  K  T  G  S  Q  Y  D  I  Q  D  A  I  D  K  G  L  V  D         p.2540

          .         .         .         .         .         .       g.48306
 AGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATG       c.7680
 R  K  F  F  D  Q  Y  R  S  G  S  L  S  L  T  Q  F  A  D  M         p.2560

          .         .         .         .         .         .       g.48366
 ATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGAT       c.7740
 I  S  L  K  N  G  V  G  T  S  S  S  M  G  S  G  V  S  D  D         p.2580

          .         .         .         .         .         .       g.48426
 GTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGG       c.7800
 V  F  S  S  S  R  H  E  S  V  S  K  I  S  T  I  S  S  V  R         p.2600

          .         .         .         .         .         .       g.48486
 AATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCA       c.7860
 N  L  T  I  R  S  S  S  F  S  D  T  L  E  E  S  S  P  I  A         p.2620

          .         .         .         .         .         .       g.48546
 GCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGC       c.7920
 A  I  F  D  T  E  N  L  E  K  I  S  I  T  E  G  I  E  R  G         p.2640

          .         .         .         .         .         .       g.48606
 ATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATC       c.7980
 I  V  D  S  I  T  G  Q  R  L  L  E  A  Q  A  C  T  G  G  I         p.2660

          .         .         .         .         .         .       g.48666
 ATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATT       c.8040
 I  H  P  T  T  G  Q  K  L  S  L  Q  D  A  V  S  Q  G  V  I         p.2680

          .         .         .         .         .         .       g.48726
 GACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGT       c.8100
 D  Q  D  M  A  T  R  L  K  P  A  Q  K  A  F  I  G  F  E  G         p.2700

          .         .         .         .         .         .       g.48786
 GTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTAT       c.8160
 V  K  G  K  K  K  M  S  A  A  E  A  V  K  E  K  W  L  P  Y         p.2720

          .         .         .         .         .         .       g.48846
 GAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAA       c.8220
 E  A  G  Q  R  F  L  E  F  Q  Y  L  T  G  G  L  V  D  P  E         p.2740

          .         .         .         .         .         .       g.48906
 GTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCC       c.8280
 V  H  G  R  I  S  T  E  E  A  I  R  K  G  F  I  D  G  R  A         p.2760

          .         .         .         .         .         .       g.48966
 GCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAA       c.8340
 A  Q  R  L  Q  D  T  S  S  Y  A  K  I  L  T  C  P  K  T  K         p.2780

          .         .         .         .         .         .       g.49026
 TTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTG       c.8400
 L  K  I  S  Y  K  D  A  I  N  R  S  M  V  E  D  I  T  G  L         p.2800

          .         .         .         .         .         .       g.49086
 CGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCT       c.8460
 R  L  L  E  A  A  S  V  S  S  K  G  L  P  S  P  Y  N  M  S         p.2820

          .         .         .         .         .         .       g.49146
 TCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGG       c.8520
 S  A  P  G  S  R  S  G  S  R  S  G  S  R  S  G  S  R  S  G         p.2840

          .         .         .         .         .         .       g.49206
 TCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTAT       c.8580
 S  R  S  G  S  R  R  G  S  F  D  A  T  G  N  S  S  Y  S  Y         p.2860

          .         .         .                                     g.49242
 TCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAG                               c.8616
 S  Y  S  F  S  S  S  S  I  G  H  X                                 p.2871

          .         .         .         .         .         .       g.49302
 tagtcagttgggagtggttgctataccttgacttcatttatatgaatttccactttatta       c.*60

          .         .         .         .         .         .       g.49362
 aataatagaaaagaaaatcccggtgcttgcagtagagtgataggacattctatgcttaca       c.*120

          .         .         .         .         .         .       g.49422
 gaaaatatagccatgattgaaatcaaatagtaaaggctgttctggctttttatcttctta       c.*180

          .         .         .         .         .         .       g.49482
 gctcatcttaaataagcagtacacttggatgcagtgcgtctgaagtgctaatcagttgta       c.*240

          .         .         .         .         .         .       g.49542
 acaatagcacaaatcgaacttaggatttgtttcttctcttctgtgtttcgatttttgatc       c.*300

          .         .         .         .         .         .       g.49602
 aattctttaattttggaagcctataatacagttttctattcttggagataaaaattaaat       c.*360

          .         .         .         .         .         .       g.49662
 ggatcactgatattttagtcattctgcttctcatctaaatatttccatattctgtattag       c.*420

          .         .         .         .         .         .       g.49722
 gagaaaattaccctcccagcaccagcccccctctcaaacccccaacccaaaaccaagcat       c.*480

          .         .         .         .         .         .       g.49782
 tttggaatgagtctcctttagtttcagagtgtggattgtataacccatatactcttcgat       c.*540

          .         .         .         .         .         .       g.49842
 gtacttgtttggtttggtattaatttgactgtgcatgacagcggcaatcttttctttggt       c.*600

          .         .         .         .         .         .       g.49902
 caaagttttctgtttattttgcttgtcatattcgatgtactttaaggtgtctttatgaag       c.*660

          .         .         .         .         .         .       g.49962
 tttgctattctggcaataaacttttagacttttgaagtgtttgtgttttaatttaatatg       c.*720

          .         .         .         .         .         .       g.50022
 tttataagcatgtataaacatttagcatatttttatcataggtctaaaaatatttgttta       c.*780

          .         .         .         .         .                 g.50077
 ctaaatacctgtgaagaaataccattaaaaaactatttggttctgaattcttact            c.*835

 (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 Desmoplakin 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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