discs, large homolog 5 (Drosophila) (DLG5) - coding DNA reference sequence

(used for variant description)

(last modified July 28, 2021)


This file was created to facilitate the description of sequence variants on transcript NM_004747.3 in the DLG5 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000010.10, covering DLG5 transcript NM_004747.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.5010
                                                   gcctgcccgc       c.-61

 .         .         .         .         .         .                g.5070
 ccgccggcctcggggggcccgggaggcgtccggcggggcggggcggcgcggcccgccacc       c.-1

          .         .         .         .         .         .       g.5130
 ATGGAGCCCCAGCGCCGGGAGCTGCTCGCCCAGTGTCAGCAGAGCCTGGCCCAGGCCATG       c.60
 M  E  P  Q  R  R  E  L  L  A  Q  C  Q  Q  S  L  A  Q  A  M         p.20

          .         .         .         .         .         .       g.5190
 ACGGAGGTGGAAGCCGTGCTCGGGCTGCTCGAGGCCGCGGGAGCGCTCAGTCCCGGCGAG       c.120
 T  E  V  E  A  V  L  G  L  L  E  A  A  G  A  L  S  P  G  E         p.40

          .         .         .         .         .         .       g.5250
 CGGCGGCAGCTGGACGAGGAGGCGGGAGGCGCCAAGGCGGAGCTGCTGCTCAAGCTGCTC       c.180
 R  R  Q  L  D  E  E  A  G  G  A  K  A  E  L  L  L  K  L  L         p.60

          .         .         .         .         .         .       g.5310
 TTGGCCAAGGAGCGGGACCACTTCCAGGACCTGCGGGCGGCGCTGGAGAAGACGCAGCCT       c.240
 L  A  K  E  R  D  H  F  Q  D  L  R  A  A  L  E  K  T  Q  P         p.80

          .         .         .         .         .         .       g.5370
 CACCTGCTGCCCATTCTCTACCTGAACGGCGTCGTCGGGCCGCCGCAGCCCGCCGAAGGC       c.300
 H  L  L  P  I  L  Y  L  N  G  V  V  G  P  P  Q  P  A  E  G         p.100

      | 02   .         .         .         .         .         .    g.62449
 GCGG | GTTCTACCTACAGCGTCCTGTCCACCATGCCCTCAGACTCAGAAAGCAGCAGCTCC    c.360
 A  G |   S  T  Y  S  V  L  S  T  M  P  S  D  S  E  S  S  S  S      p.120

          .    | 03    .         .         .         .         .    g.74745
 CTCAGCAGTGTGG | GCACTACCGGGAAGGCGCCGTCCCCACCACCCCTCCTCACTGACCAG    c.420
 L  S  S  V  G |   T  T  G  K  A  P  S  P  P  P  L  L  T  D  Q      p.140

          .         .         .         .         .         .       g.74805
 CAAGTGAATGAGAAGGTGGAGAACCTCTCCATTCAGCTGCGGCTGATGACCCGGGAGAGA       c.480
 Q  V  N  E  K  V  E  N  L  S  I  Q  L  R  L  M  T  R  E  R         p.160

          .         .         .         .         .       | 04 .    g.77224
 AACGAGCTCCGCAAGCGCCTGGCCTTTGCTACGCATGGCACGGCCTTTGACAAGAG | GCCC    c.540
 N  E  L  R  K  R  L  A  F  A  T  H  G  T  A  F  D  K  R  |  P      p.180

          .         .         .         .         .         .       g.77284
 TACCACAGGCTGAATCCTGACTATGAGAGGCTGAAGATCCAGTGCGTGCGAGCCATGTCG       c.600
 Y  H  R  L  N  P  D  Y  E  R  L  K  I  Q  C  V  R  A  M  S         p.200

          .         .         .         .         .         .       g.77344
 GACCTGCAGAGCCTGCAGAACCAGCACACCAACGCCTTGAAGAGGTGTGAGGAGGTGGCC       c.660
 D  L  Q  S  L  Q  N  Q  H  T  N  A  L  K  R  C  E  E  V  A         p.220

          .         . | 05       .         .         .         .    g.78093
 AAGGAGACTGACTTCTACCA | CACACTCCACAGCCGGCTCCTGAGTGACCAGACTCGGCTG    c.720
 K  E  T  D  F  Y  H  |  T  L  H  S  R  L  L  S  D  Q  T  R  L      p.240

          .         .         .         .         .         .       g.78153
 AAGGATGACGTGGACATGCTGAGGCGGGAGAATGGGCAGCTGCTGCGGGAGCGAAACCTG       c.780
 K  D  D  V  D  M  L  R  R  E  N  G  Q  L  L  R  E  R  N  L         p.260

          .         .         .         .         .         .       g.78213
 CTGCAGCAGTCATGGGAGGACATGAAGCGGCTCCACGAGGAGGACCAGAAGGAGATCGGT       c.840
 L  Q  Q  S  W  E  D  M  K  R  L  H  E  E  D  Q  K  E  I  G         p.280

          .         .     | 06   .         .         .         .    g.87920
 GACCTCCGTGCCCAGCAGCAGCAG | GTGTTGAAGCACAACGGGTCATCCGAGATTCTCAAC    c.900
 D  L  R  A  Q  Q  Q  Q   | V  L  K  H  N  G  S  S  E  I  L  N      p.300

          .         .         .         .         .         .       g.87980
 AAACTGTATGACACGGCCATGGACAAGTTGGAGGTGGTCAAGAAGGACTATGACGCCCTT       c.960
 K  L  Y  D  T  A  M  D  K  L  E  V  V  K  K  D  Y  D  A  L         p.320

          .         .         .         .         .         .       g.88040
 CGGAAGAGGTACAGTGAGAAAGTCGCCATCCACAATGCAGACCTGAGCCGCCTGGAGCAG       c.1020
 R  K  R  Y  S  E  K  V  A  I  H  N  A  D  L  S  R  L  E  Q         p.340

          .         .         .         .         .         .       g.88100
 CTGGGGGAGGAGAACCAGCGGTTGCTGAAGCAGACAGAGATGCTGACCCAGCAGAGGGAC       c.1080
 L  G  E  E  N  Q  R  L  L  K  Q  T  E  M  L  T  Q  Q  R  D         p.360

          .         .         .         .     | 07   .         .    g.89413
 ACGGCCATCCAGCTGCAGCACCAGTGCGCCCTCTCCCTGAGGAG | GTTTGAGGCGATCCAC    c.1140
 T  A  I  Q  L  Q  H  Q  C  A  L  S  L  R  R  |  F  E  A  I  H      p.380

          .         .         .         .         .         .       g.89473
 CATGAGCTGAACAAGGCCACGGCGCAGAACAAGGACCTGCAGTGGGAGATGGAGCTGCTG       c.1200
 H  E  L  N  K  A  T  A  Q  N  K  D  L  Q  W  E  M  E  L  L         p.400

          .         .         .         .         .         .       g.89533
 CAGTCAGAGCTGACCGAGCTGAGAACCACGCAGGTGAAGACAGCAAAGGAGTCGGAGAAA       c.1260
 Q  S  E  L  T  E  L  R  T  T  Q  V  K  T  A  K  E  S  E  K         p.420

          .         .         .         .         .         .       g.89593
 TACAGGGAGGAGCGGGACGCTGTGTACAGCGAGTACAAGCTCATCATGAGTGAGCGTGAC       c.1320
 Y  R  E  E  R  D  A  V  Y  S  E  Y  K  L  I  M  S  E  R  D         p.440

          .         .         .         .         .         .       g.89653
 CAGGTCATCTCTGAGCTGGACAAGCTGCAGACCGAAGTGGAGCTGGCCGAGTCCAAGCTC       c.1380
 Q  V  I  S  E  L  D  K  L  Q  T  E  V  E  L  A  E  S  K  L         p.460

          .         .         .         .         .        | 08.    g.95671
 AAGAGCAGCACATCTGAGAAGAAGGCGGCCAATGAGGAGATGGAGGCGCTGCGGCAG | ATC    c.1440
 K  S  S  T  S  E  K  K  A  A  N  E  E  M  E  A  L  R  Q   | I      p.480

          .         .         .         .         .         .       g.95731
 AAAGACACGGTGACAATGGATGCTGGGAGAGCCAACAAGGAGGTTGAAATCCTTCGAAAG       c.1500
 K  D  T  V  T  M  D  A  G  R  A  N  K  E  V  E  I  L  R  K         p.500

          .         .         .         .         .         .       g.95791
 CAGTGCAAGGCTCTGTGCCAGGAGCTGAAGGAAGCCCTCCAGGAGGCGGATGTGGCCAAG       c.1560
 Q  C  K  A  L  C  Q  E  L  K  E  A  L  Q  E  A  D  V  A  K         p.520

          .         .         .         .         .         .       g.95851
 TGCCGGCGGGACTGGGCCTTCCAGGAGCGAGACAAGATTGTAGCAGAGCGTGACAGCATC       c.1620
 C  R  R  D  W  A  F  Q  E  R  D  K  I  V  A  E  R  D  S  I         p.540

    | 09     .         .         .         .         .         .    g.97609
 CG | GACACTGTGTGACAACCTGAGGCGGGAGCGGGACCGTGCGGTGAGCGAGCTGGCTGAG    c.1680
 R  |  T  L  C  D  N  L  R  R  E  R  D  R  A  V  S  E  L  A  E      p.560

          .         .         .         .         .         .       g.97669
 GCCCTGCGCAGCCTGGATGACACCCGCAAGCAGAAGAATGATGTCAGCCGCGAGCTGAAG       c.1740
 A  L  R  S  L  D  D  T  R  K  Q  K  N  D  V  S  R  E  L  K         p.580

          | 10         .         .         .         .         .    g.100769
 GAGCTCAA | GGAACAGATGGAATCCCAGTTGGAAAAGGAGGCCCGGTTCCGACAGCTGATG    c.1800
 E  L  K  |  E  Q  M  E  S  Q  L  E  K  E  A  R  F  R  Q  L  M      p.600

          .         .         .         .         .         .       g.100829
 GCCCACAGCTCCCACGACTCGGCCATTGACACGGATTCCATGGAGTGGGAAACGGAAGTT       c.1860
 A  H  S  S  H  D  S  A  I  D  T  D  S  M  E  W  E  T  E  V         p.620

          .         .  | 11      .         .         .         .    g.101285
 GTAGAGTTCGAGAGGGAGACG | GAGGATATTGACTTGAAGGCACTGGGGTTTGATATGGCA    c.1920
 V  E  F  E  R  E  T   | E  D  I  D  L  K  A  L  G  F  D  M  A      p.640

          .         .         .         .         .         .       g.101345
 GAAGGTGTGAATGAGCCTTGTTTCCCGGGGGACTGTGGCATATTTGTCACTAAAGTGGAC       c.1980
 E  G  V  N  E  P  C  F  P  G  D  C  G  I  F  V  T  K  V  D         p.660

          .         .          | 12        .         .         .    g.102091
 AAAGGAAGCATTGCTGATGGCCGCTTAAG | GGTCAATGACTGGCTGCTGAGAATCAACGAT    c.2040
 K  G  S  I  A  D  G  R  L  R  |  V  N  D  W  L  L  R  I  N  D      p.680

          .         .         .         .         .         .       g.102151
 GTGGACCTCATCAACAAGGACAAGAAGCAGGCCATCAAGGCGCTCCTCAATGGGGAGGGG       c.2100
 V  D  L  I  N  K  D  K  K  Q  A  I  K  A  L  L  N  G  E  G         p.700

          .         .         .         .         .         .       g.102211
 GCCATCAACATGGTCGTGCGGCGGAGGAAGTCCCTGGGTGGGAAGGTGGTCACGCCGCTG       c.2160
 A  I  N  M  V  V  R  R  R  K  S  L  G  G  K  V  V  T  P  L         p.720

          .         .      | 13  .         .         .         .    g.102640
 CACATCAACCTCAGTGGACAGAAAG | ACAGTGGCATCAGTCTGGAGAATGGAGTGTATGCT    c.2220
 H  I  N  L  S  G  Q  K  D |   S  G  I  S  L  E  N  G  V  Y  A      p.740

          .         .         .         .         .         .       g.102700
 GCCGCTGTGCTGCCTGGAAGCCCTGCCGCTAAAGAAGGGTCCCTTGCTGTGGGAGACAGG       c.2280
 A  A  V  L  P  G  S  P  A  A  K  E  G  S  L  A  V  G  D  R         p.760

           | 14        .         .         .         .         .    g.107165
 ATCGTTGCG | ATCAATGGCATTGCACTGGACAACAAGTCTCTGAATGAATGTGAATCTCTG    c.2340
 I  V  A   | I  N  G  I  A  L  D  N  K  S  L  N  E  C  E  S  L      p.780

          .         .         .         .   | 15     .         .    g.109507
 CTGCGCAGCTGCCAGGACTCCCTGACCCTGTCCCTCCTGAAG | GTATTCCCTCAGAGCTCC    c.2400
 L  R  S  C  Q  D  S  L  T  L  S  L  L  K   | V  F  P  Q  S  S      p.800

          .         .         .         .         .         .       g.109567
 TCGTGGAGTGGCCAGAACATTTTTGAAAATATCAAAGACTCTGATAAGATGCTGAGTTTT       c.2460
 S  W  S  G  Q  N  I  F  E  N  I  K  D  S  D  K  M  L  S  F         p.820

          .         .         .         .         .         .       g.109627
 CGAGCCCATGGCCCGGAGGTCCAGGCTCATAACAAACGGAACTTGATACAGCACAATAAC       c.2520
 R  A  H  G  P  E  V  Q  A  H  N  K  R  N  L  I  Q  H  N  N         p.840

          .         .         .         .         .         .       g.109687
 TCCACGCAGACAGACATCTTCTACACGGACAGGCTGGAAGACAGGAAGGAGCCAGGCCCC       c.2580
 S  T  Q  T  D  I  F  Y  T  D  R  L  E  D  R  K  E  P  G  P         p.860

          .         .         .         .         .         .       g.109747
 CCAGGAGGCAGCAGCTCCTTTCTGCATAAGCCATTCCCTGGGGGACCCTTGCAGGTCTGC       c.2640
 P  G  G  S  S  S  F  L  H  K  P  F  P  G  G  P  L  Q  V  C         p.880

          .         .         .         .         .         .       g.109807
 CCCCAGGCCTGTCCCAGTGCCTCTGAGCGTAGCCTGAGCTCCTTCCGCTCAGATGCCTCT       c.2700
 P  Q  A  C  P  S  A  S  E  R  S  L  S  S  F  R  S  D  A  S         p.900

          .         .         .         .         .         .       g.109867
 GGGGACCGTGGCTTTGGGCTGGTGGACGTGCGTGGCCGGCGGCCACTGCTGCCCTTTGAG       c.2760
 G  D  R  G  F  G  L  V  D  V  R  G  R  R  P  L  L  P  F  E         p.920

          .         .         .         .         .         .       g.109927
 ACCGAGGTGGGCCCCTGTGGGGTTGGGGAGGCCTCCCTGGACAAGGCAGACTCTGAAGGC       c.2820
 T  E  V  G  P  C  G  V  G  E  A  S  L  D  K  A  D  S  E  G         p.940

          .         .         .         .         .         .       g.109987
 TCCAACAGCGGCGGGACCTGGCCCAAGGCCATGCTCAGCTCCACGGCAGTGCCTGAGAAG       c.2880
 S  N  S  G  G  T  W  P  K  A  M  L  S  S  T  A  V  P  E  K         p.960

          .         .         .         .         .         .       g.110047
 CTCTCTGTTTATAAAAAGCCAAAGCAAAGAAAGTCCATCTTTGACCCTAACACTTTCAAA       c.2940
 L  S  V  Y  K  K  P  K  Q  R  K  S  I  F  D  P  N  T  F  K         p.980

          .         .         .         .         .         .       g.110107
 CGCCCCCAGACACCCCCCAAAATAGACTACCTGCTTCCAGGTCCTGGGCCTGCTCACTCT       c.3000
 R  P  Q  T  P  P  K  I  D  Y  L  L  P  G  P  G  P  A  H  S         p.1000

          .         .         .         .         .         .       g.110167
 CCCCAGCCCTCCAAGAGGGCGGGGCCTCTGACACCCCCAAAACCTCCCAGAAGGAGCGAC       c.3060
 P  Q  P  S  K  R  A  G  P  L  T  P  P  K  P  P  R  R  S  D         p.1020

          .         .         .         .         .         .       g.110227
 TCCATTAAGTTCCAGCACAGGCTGGAGACTAGCTCCGAGTCAGAAGCCACTCTGGTGGGC       c.3120
 S  I  K  F  Q  H  R  L  E  T  S  S  E  S  E  A  T  L  V  G         p.1040

          .         .         .         .         .         .       g.110287
 AGCTCCCCATCCACTAGTCCCCCGAGCGCCCTGCCCCCTGACGTGGACCCCGGGGAGCCC       c.3180
 S  S  P  S  T  S  P  P  S  A  L  P  P  D  V  D  P  G  E  P         p.1060

          .         .         .         .         .         .       g.110347
 ATGCACGCATCACCCCCTCGCAAGGCCAGGGTCCGCATTGCTTCCAGCTACTACCCTGAA       c.3240
 M  H  A  S  P  P  R  K  A  R  V  R  I  A  S  S  Y  Y  P  E         p.1080

          .         .         .         .         .         .       g.110407
 GGAGATGGGGACTCCTCCCACCTGCCGGCCAAGAAATCCTGTGATGAGGACCTCACCTCC       c.3300
 G  D  G  D  S  S  H  L  P  A  K  K  S  C  D  E  D  L  T  S         p.1100

          .         .         .         .         .         .       g.110467
 CAGAAGGTGGATGAGCTGGGGCAGAAGCGTCGCCGGCCAAAATCTGCTCCCAGTTTTCGG       c.3360
 Q  K  V  D  E  L  G  Q  K  R  R  R  P  K  S  A  P  S  F  R         p.1120

          .         .         .         .   | 16     .         .    g.111590
 CCGAAGCTTGCTCCAGTAGTGATTCCTGCTCAGTTCCTGGAG | GAACAGAAGTGTGTCCCG    c.3420
 P  K  L  A  P  V  V  I  P  A  Q  F  L  E   | E  Q  K  C  V  P      p.1140

          .         .         .         .         .         .       g.111650
 GCCAGTGGAGAACTCTCCCCGGAGCTCCAGGAGTGGGCACCTTACTCGCCTGGGCATTCC       c.3480
 A  S  G  E  L  S  P  E  L  Q  E  W  A  P  Y  S  P  G  H  S         p.1160

          .         .         .         .       | 17 .         .    g.112139
 AGCCGGCACAGCAACCCCCCGCTATACCCTAGCAGGCCGTCTGTGG | GCACTGTTCCCCGG    c.3540
 S  R  H  S  N  P  P  L  Y  P  S  R  P  S  V  G |   T  V  P  R      p.1180

          .         .         .         .         .         .       g.112199
 AGTTTGACCCCCAGCACCACTGTGAGCTCCATCCTGCGGAACCCCATCTACACTGTGCGC       c.3600
 S  L  T  P  S  T  T  V  S  S  I  L  R  N  P  I  Y  T  V  R         p.1200

          .         .         .         .         .         .       g.112259
 AGTCACAGGGTCGGCCCCTGCAGCTCTCCACCTGCGGCCCGAGATGCTGGCCCCCAGGGT       c.3660
 S  H  R  V  G  P  C  S  S  P  P  A  A  R  D  A  G  P  Q  G         p.1220

          .  | 18      .         .         .         .         .    g.113750
 TTGCATCCCAG | TGTCCAGCACCAGGGACGCCTGAGCCTGGACCTGAGCCACAGGACCTGC    c.3720
 L  H  P  S  |  V  Q  H  Q  G  R  L  S  L  D  L  S  H  R  T  C      p.1240

          .         .         .         .         .         .       g.113810
 AGCGACTACTCCGAGATGAGAGCCACCCATGGGTCCAACTCACTGCCCTCCAGCGCCCGC       c.3780
 S  D  Y  S  E  M  R  A  T  H  G  S  N  S  L  P  S  S  A  R         p.1260

      | 19   .         .         .         .         .         .    g.114550
 CTGG | GTTCTTCGAGTAACTTGCAGTTCAAGGCGGAACGCATTAAAATCCCATCAACACCA    c.3840
 L  G |   S  S  S  N  L  Q  F  K  A  E  R  I  K  I  P  S  T  P      p.1280

          .         .         .     | 20   .         .         .    g.114915
 AGATATCCGCGGAGTGTCGTGGGCTCCGAGAGAG | GTTCAGTGTCACATTCTGAATGCAGC    c.3900
 R  Y  P  R  S  V  V  G  S  E  R  G |   S  V  S  H  S  E  C  S      p.1300

          .         .         .         .         .         .       g.114975
 ACTCCTCCACAGTCACCCCTGAACATCGACACCCTGTCCTCTTGTAGCCAGTCCCAGACC       c.3960
 T  P  P  Q  S  P  L  N  I  D  T  L  S  S  C  S  Q  S  Q  T         p.1320

          .         .         .         .         .         .       g.115035
 TCAGCCTCCACATTGCCCAGAATCGCTGTCAACCCCGCGTCCCTCGGGGAGCGGAGAAAG       c.4020
 S  A  S  T  L  P  R  I  A  V  N  P  A  S  L  G  E  R  R  K         p.1340

       | 21  .         .         .         .         .         .    g.119268
 GACAG | GCCTTATGTGGAGGAGCCACGCCACGTGAAGGTGCAGAAGGGCTCAGAGCCGCTG    c.4080
 D  R  |  P  Y  V  E  E  P  R  H  V  K  V  Q  K  G  S  E  P  L      p.1360

          .         .         .         .         .         .       g.119328
 GGCATCTCCATCGTGAGTGGAGAGAAGGGCGGCATCTACGTCTCCAAGGTGACCGTGGGG       c.4140
 G  I  S  I  V  S  G  E  K  G  G  I  Y  V  S  K  V  T  V  G         p.1380

          .         .         .         .         | 22         .    g.119545
 AGCATCGCTCACCAGGCTGGCCTCGAGTATGGGGATCAGTTACTGGAG | TTCAACGGCATA    c.4200
 S  I  A  H  Q  A  G  L  E  Y  G  D  Q  L  L  E   | F  N  G  I      p.1400

          .         .         .         .         .         .       g.119605
 AACCTGCGGAGCGCCACGGAGCAGCAGGCGCGGCTCATCATCGGGCAGCAGTGTGATACC       c.4260
 N  L  R  S  A  T  E  Q  Q  A  R  L  I  I  G  Q  Q  C  D  T         p.1420

          .         .         .         .         .         .       g.119665
 ATCACCATCCTGGCCCAGTACAACCCCCACGTGCACCAGCTCAGCAGCCACTCCCGGTCC       c.4320
 I  T  I  L  A  Q  Y  N  P  H  V  H  Q  L  S  S  H  S  R  S         p.1440

    | 23     .         .         .         .         .         .    g.120414
 AG | CTCACACCTGGACCCTGCCGGTACCCACTCCACTCTCCAGGGCAGTGGCACCACCACC    c.4380
 S  |  S  H  L  D  P  A  G  T  H  S  T  L  Q  G  S  G  T  T  T      p.1460

          .         .         .         .         .         .       g.120474
 CCGGAGCATCCATCTGTCATCGACCCACTGATGGAGCAGGACGAGGGGCCTAGCACCCCC       c.4440
 P  E  H  P  S  V  I  D  P  L  M  E  Q  D  E  G  P  S  T  P         p.1480

          .         .    | 24    .         .         .         .    g.121897
 CCAGCCAAGCAGAGCAGCTCCAG | GATTGCGGGAGATGCCAACAAGAAGACCCTGGAGCCA    c.4500
 P  A  K  Q  S  S  S  R  |  I  A  G  D  A  N  K  K  T  L  E  P      p.1500

          .         .         .         .         .         .       g.121957
 CGCGTTGTCTTCATCAAAAAGTCCCAGCTGGAGCTTGGGGTGCACTTGTGTGGTGGGAAC       c.4560
 R  V  V  F  I  K  K  S  Q  L  E  L  G  V  H  L  C  G  G  N         p.1520

          .         .         .         .         .         .       g.122017
 CTGCATGGGGTGTTTGTGGCCGAGGTGGAGGATGACAGTCCTGCCAAGGGTCCTGACGGC       c.4620
 L  H  G  V  F  V  A  E  V  E  D  D  S  P  A  K  G  P  D  G         p.1540

          .         .        | 25.         .         .         .    g.123679
 CTCGTGCCAGGGGACCTCATCCTGGAG | TATGGCAGCCTGGACGTGCGGAACAAGACAGTG    c.4680
 L  V  P  G  D  L  I  L  E   | Y  G  S  L  D  V  R  N  K  T  V      p.1560

          .         .         .         .         .         .       g.123739
 GAGGAAGTCTATGTGGAGATGCTGAAGCCCAGGGATGGCGTCCGCCTGAAGGTGCAGTAC       c.4740
 E  E  V  Y  V  E  M  L  K  P  R  D  G  V  R  L  K  V  Q  Y         p.1580

          .         .         .         .         .       | 26 .    g.124666
 CGCCCTGAGGAGTTCACGAAGGCCAAGGGCCTGCCTGGTGACAGCTTCTACATCAG | GGCC    c.4800
 R  P  E  E  F  T  K  A  K  G  L  P  G  D  S  F  Y  I  R  |  A      p.1600

          .         .         .         .         .         .       g.124726
 CTGTACGACCGGCTGGCAGATGTGGAGCAAGAGTTGAGCTTTAAGAAGGACGACATCCTC       c.4860
 L  Y  D  R  L  A  D  V  E  Q  E  L  S  F  K  K  D  D  I  L         p.1620

          .         .         .         .         .         .       g.124786
 TACGTGGATGACACCTTACCCCAGGGCACGTTCGGGTCCTGGATGGCTTGGCAGCTGGAC       c.4920
 Y  V  D  D  T  L  P  Q  G  T  F  G  S  W  M  A  W  Q  L  D         p.1640

          .         .         .         .        | 27.         .    g.125742
 GAGAATGCCCAGAAGATCCAGCGCGGGCAGATTCCCAGCAAATATGT | GATGGACCAAGAA    c.4980
 E  N  A  Q  K  I  Q  R  G  Q  I  P  S  K  Y  V  |  M  D  Q  E      p.1660

          .         .         .         .         .         .       g.125802
 TTCTCCAGGAGGCTCAGCATGTCTGAAGTCAAAGATGACAATAGCGCCACAAAGACGCTG       c.5040
 F  S  R  R  L  S  M  S  E  V  K  D  D  N  S  A  T  K  T  L         p.1680

          .         .         .         .         .         .       g.125862
 TCAGCGGCTGCACGCCGGTCCTTTTTTCGGAGGAAACACAAGCACAAACGCAGCGGGTCC       c.5100
 S  A  A  A  R  R  S  F  F  R  R  K  H  K  H  K  R  S  G  S         p.1700

          .         .         .         .         .         .       g.125922
 AAGGACGGGAAAGACCTGCTCGCCTTGGATGCCTTTTCCAGTGACTCCATTCCACTCTTT       c.5160
 K  D  G  K  D  L  L  A  L  D  A  F  S  S  D  S  I  P  L  F         p.1720

      | 28   .         .         .         .         .         .    g.135052
 GAAG | ATTCGGTGAGCCTGGCCTATCAGCGGGTCCAGAAGGTGGACTGCACCGCTCTGAGG    c.5220
 E  D |   S  V  S  L  A  Y  Q  R  V  Q  K  V  D  C  T  A  L  R      p.1740

          .         .         .         .         .         .       g.135112
 CCTGTCCTGATTCTGGGGCCTTTGCTGGACGTGGTGAAGGAGATGCTGGTGAATGAGGCT       c.5280
 P  V  L  I  L  G  P  L  L  D  V  V  K  E  M  L  V  N  E  A         p.1760

          .         .         | 29         .         .         .    g.135434
 CCTGGCAAGTTCTGCAGATGTCCCCTTG | AGGTGATGAAGGCCTCCCAGCAGGCCATTGAG    c.5340
 P  G  K  F  C  R  C  P  L  E |   V  M  K  A  S  Q  Q  A  I  E      p.1780

          .         .         .         .         .         .       g.135494
 CGGGGTGTCAAAGATTGCCTGTTTGTCGACTATAAGCGGAGAAGCGGCCATTTCGATGTG       c.5400
 R  G  V  K  D  C  L  F  V  D  Y  K  R  R  S  G  H  F  D  V         p.1800

          .         .         .       | 30 .         .         .    g.136656
 ACCACTGTGGCGTCAATAAAGGAGATCACAGAAAAG | AACCGACACTGCCTCCTGGACATT    c.5460
 T  T  V  A  S  I  K  E  I  T  E  K   | N  R  H  C  L  L  D  I      p.1820

          .         .         .         .         .         .       g.136716
 GCTCCGCACGCTATTGAGCGGCTCCACCACATGCACATCTACCCCATTGTCATCTTCATC       c.5520
 A  P  H  A  I  E  R  L  H  H  M  H  I  Y  P  I  V  I  F  I         p.1840

          .         .       | 31 .         .         .         .    g.137507
 CACTACAAGAGCGCCAAGCACATCAA | GGAGCAGAGAGACCCCATCTACCTGAGGGACAAG    c.5580
 H  Y  K  S  A  K  H  I  K  |  E  Q  R  D  P  I  Y  L  R  D  K      p.1860

          .         .         .         .         .         .       g.137567
 GTGACTCAGAGGCATTCCAAAGAGCAGTTTGAGGCGGCGCAGAAGCTTGAGCAGGAGTAC       c.5640
 V  T  Q  R  H  S  K  E  Q  F  E  A  A  Q  K  L  E  Q  E  Y         p.1880

          .       | 32 .         .         .         .         .    g.139091
 AGCAGGTACTTCACAG | GGGTCATCCAGGGAGGAGCCCTGTCAAGCATTTGCACTCAGATC    c.5700
 S  R  Y  F  T  G |   V  I  Q  G  G  A  L  S  S  I  C  T  Q  I      p.1900

          .         .         .         .         .         .       g.139151
 TTGGCAATGGTCAATCAAGAACAAAATAAAGTCCTGTGGATTCCAGCCTGCCCGCTCTAG       c.5760
 L  A  M  V  N  Q  E  Q  N  K  V  L  W  I  P  A  C  P  L  X         p.1919

          .         .         .         .         .         .       g.139211
 gagaatgctgtgctgtggatgactgcagctggccgcctgaggggacaccagactcagctc       c.*60

          .         .         .         .         .         .       g.139271
 ttttctagcgactgaaagtagaagtctgtccgtctatgaacatgcgggggaaggatccgg       c.*120

          .         .         .         .         .         .       g.139331
 aaccaggacccagaagcacctcctttgtagacagagggccacggctgcgtgcgatccagg       c.*180

          .         .         .         .         .         .       g.139391
 cccaggcccacacactctgcccgtgtcacacgtgtgctttaacacaaaacagataacact       c.*240

          .         .         .         .         .         .       g.139451
 aaagacgggttcagcacccacctttctttagccagctgatcagagatgctgcaaagagaa       c.*300

          .         .         .         .         .         .       g.139511
 cctttcggatcactcgtttacaagccttttctaagtatttggtggtttatgtttacttga       c.*360

          .         .         .         .         .         .       g.139571
 acggctccatgttgccggtgcccagcccctgtcccctctgtcaaccccctgtcgctttgg       c.*420

          .         .         .         .         .         .       g.139631
 tgttggtttcgttcccgtcttcagcaaaacgaccttggaacctcaatgggggctgctttg       c.*480

          .         .         .         .         .         .       g.139691
 ctttgggaggttcttgttggtgggaccagagctttgacaaacctcctgctccttggtggc       c.*540

          .         .         .         .         .         .       g.139751
 acctctcctggaaggacgtcacaactccaggtgctcagactgcctgtggcagcagaacca       c.*600

          .         .         .         .         .         .       g.139811
 gtgcctttggcattttcctcccacaatggggaaggtgactttggcattcttacaaactcg       c.*660

          .         .         .         .         .         .       g.139871
 tctctcggcctttctctcctgccttccacagcctctcgtttctcctccatctgtgcttat       c.*720

          .         .         .         .         .         .       g.139931
 tacttgaggactgtgtctgctccgtgagagctgcgtgggcagggctgcagtggggtccag       c.*780

          .         .         .         .         .         .       g.139991
 gtggtgttcagctgtgctgatgcctgccattgggtcctccttaggctctgtaagtcgtga       c.*840

          .         .         .         .         .         .       g.140051
 cagccttcatcagtgcaatgtttgcagggtaattcttaaactttttagagggtggcaggt       c.*900

          .         .         .         .         .         .       g.140111
 acatcagttctttttgatatgaaaacattcatgtttcagacattgaattgagagctttta       c.*960

          .         .         .         .         .         .       g.140171
 ggggaagcataatggttattgtcactatcaacagtctaaaaagaaaaactgaggtctttt       c.*1020

          .         .         .         .         .         .       g.140231
 taatcttgattacagcactcacggcatgcaccctactcagtgtgggtgtcttcgtttggg       c.*1080

          .         .         .         .         .         .       g.140291
 ggctttttttttttttgcacttctgaggctagatatgtctggctgaagatttgatgtggt       c.*1140

          .         .         .         .         .         .       g.140351
 tcctccttaagctatgcgtcctgttaataataggtactgtactgggctctgtgtaagtgt       c.*1200

          .         .         .         .         .         .       g.140411
 cgttggggtaggacctatattttaatactgttcctaacatttcattttactagcgagaaa       c.*1260

          .         .         .         .         .         .       g.140471
 tctttgatttcattttattctttgtaattctagacactagattgtagtttagccataact       c.*1320

          .         .         .         .         .         .       g.140531
 gatgttttttaaaaagggatatattttcttgcacagttgttcaaaaaagagacaagtttc       c.*1380

          .         .         .         .         .         .       g.140591
 agtcctcaatgctgtcctttgttttacaggtacaagttttctagctcagacaaactatga       c.*1440

          .         .         .         .         .         .       g.140651
 aaaactgtagactattctcaaggtattaactcgcagaccctctgggggtaggggctgttt       c.*1500

          .         .         .         .         .         .       g.140711
 tctaagttacaggcagagtgggactgagatggtacagtgtgcacagacaggtactgagct       c.*1560

          .         .         .         .         .         .       g.140771
 gacagactgggattttctgtactaaaatgttactttgtatcaaaagttaaacaggcttta       c.*1620

          .         .                                               g.140800
 gtacaacaaataaaggtcaatttctgtaa                                      c.*1649

 (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 Discs, large homolog 5 (Drosophila) 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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