Dystrophin-Associated Glycoprotein 1 (DAG1) - coding DNA reference sequence

(used for mutation description)

(last modified February 22, 2011)


This file was created to facilitate the description of sequence variants in the DAG1 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_013230.2, covering DAG1 transcript variant-1 (NM_001165928.2). A range of DAG1 transcripts have been described, containing variable numbers of exons in the 5'UTR, e.g. alternatively spliced exons 02 to 04 and exons 02b and 02c. Some transcripts use an upstream alternative promoter/exon01b (transcript variant-12, NM_001177643.1).

Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5059
  aggcagaagccggcggcgcgcggacagccagtcggcgccgcgcggagctggccgctgga       c.-721

 .         .         .         .         .         .                g.5119
 ttggctgcaacactcgcgtgtcaggcggttgctaggctccggccgcgcgccccgcccttg       c.-661

 .         .         .    /       .         .         .                g.5179
 cgctcagcgccctctcaccgcccg / gtacgtgctcgcgcgaaggctgcggcgcggcgctcg       c.-601
                          ^  alternative splice site

 .         .         .         .         .         .                g.5239
 cgcctcttaggcttggcggtggcggcggcggcagcttcgcgccgaatccccggggagcgg       c.-541

 .         .         .         .         .         .                g.5299
 cggtggcggcgtcctggggccaggaggagcgaacacctgccgcggtcctcccgccggcgc       c.-481

 .   | 02     .         .         .         .         .             g.22179
 tgg | gcacacgactgtctatcccagatggctgcactggcctaggacagacggttcttcccc    c.-421
     ^  alternative splice site in intron 01

 .         .         .         .         .         .                g.22239
 cagtacgtcaagaccctggagggtgcaagctacagaacagctgggctcctgcattcctcc       c.-361

 .         .         .         .         .     | 03   .             g.23581
 cagaccctgtcttcagtaggacaacaggcaacaaacttaaatttg | ggtcaagcgattccc    c.-301

 .         .         .         .   | 04     .         .             g.27718
 ctgcctcagcttcctgagtagctgggattacag | atagccctgggatctcctgaatttcca    c.-241

 .         .         .         .         .         .                g.27778
 ggttgggctactcaggcatggattgactcctacagttcaggcggatggagatcccaccaa       c.-181

 .         .         .         .         .         .                g.27838
 cccacagcttaattcttcagatgctttatcttcatttctcatgtatcttcagttggcttc       c.-121

 .    | 05    .         .         .         .         .             g.45343
 taat | gctctgtgtgctccgggatggagcaggtgtgcagagggtgagaacccagctctggg    c.-61

 .         .         .         .         .         .                g.45403
 accaagtcacttgcttccttacttagcaagactatcgacttgagcaaacttggacctggg       c.-1

          .         .         .         .         .         .       g.45463
 ATGAGGATGTCTGTGGGCCTCTCGCTGCTGCTGCCCCTCTGGGGGAGGACCTTTCTCCTC       c.60
 M  R  M  S  V  G  L  S  L  L  L  P  L  W  G  R  T  F  L  L         p.20

          .         .         .         .         .         .       g.45523
 CTGCTCTCTGTGGTTATGGCTCAGTCCCACTGGCCCAGTGAACCCTCAGAGGCTGTCAGG       c.120
 L  L  S  V  V  M  A  Q  S  H  W  P  S  E  P  S  E  A  V  R         p.40

          .         .         .         .         .         .       g.45583
 GACTGGGAAAACCAGCTTGAGGCATCCATGCACTCAGTGCTCTCAGACCTCCACGAGGCT       c.180
 D  W  E  N  Q  L  E  A  S  M  H  S  V  L  S  D  L  H  E  A         p.60

          .         .         .         .         .         .       g.45643
 GTTCCCACAGTGGTTGGCATTCCTGATGGCACGGCTGTCGTCGGGCGCTCATTTCGAGTG       c.240
 V  P  T  V  V  G  I  P  D  G  T  A  V  V  G  R  S  F  R  V         p.80

          .         .         .         .      | 06  .         .    g.65680
 ACCATTCCAACAGATTTGATTGCCTCCAGTGGAGATATCATCAAG | GTATCAGCGGCAGGG    c.300
 T  I  P  T  D  L  I  A  S  S  G  D  I  I  K   | V  S  A  A  G      p.100

          .         .         .         .         .         .       g.65740
 AAGGAGGCTTTGCCATCTTGGCTGCACTGGGACTCACAGAGCCACACCCTGGAGGGCCTC       c.360
 K  E  A  L  P  S  W  L  H  W  D  S  Q  S  H  T  L  E  G  L         p.120

          .         .         .         .         .         .       g.65800
 CCCCTTGACACTGATAAGGGTGTGCATTACATTTCAGTGAGCGCTACACGGCTGGGGGCC       c.420
 P  L  D  T  D  K  G  V  H  Y  I  S  V  S  A  T  R  L  G  A         p.140

          .         .         .         .         .         .       g.65860
 AACGGGAGCCACATCCCCCAGACCTCCAGTGTGTTCTCCATCGAGGTCTACCCTGAAGAC       c.480
 N  G  S  H  I  P  Q  T  S  S  V  F  S  I  E  V  Y  P  E  D         p.160

          .         .         .         .         .         .       g.65920
 CACAGTGAGCTGCAGTCGGTGAGGACAGCCTCCCCAGACCCTGGTGAGGTGGTATCATCT       c.540
 H  S  E  L  Q  S  V  R  T  A  S  P  D  P  G  E  V  V  S  S         p.180

          .         .         .         .         .         .       g.65980
 GCCTGTGCTGCGGATGAACCTGTGACTGTTTTGACGGTGATTTTGGATGCCGACCTCACC       c.600
 A  C  A  A  D  E  P  V  T  V  L  T  V  I  L  D  A  D  L  T         p.200

          .         .         .         .         .         .       g.66040
 AAGATGACCCCAAAGCAAAGGATTGACCTCCTGCACAGGATGCGGAGCTTCTCAGAAGTA       c.660
 K  M  T  P  K  Q  R  I  D  L  L  H  R  M  R  S  F  S  E  V         p.220

          .         .         .         .         .         .       g.66100
 GAGCTTCACAACATGAAATTAGTGCCGGTGGTGAATAACAGACTATTTGACATGTCGGCC       c.720
 E  L  H  N  M  K  L  V  P  V  V  N  N  R  L  F  D  M  S  A         p.240

          .         .         .         .         .         .       g.66160
 TTCATGGCTGGCCCGGGAAATGCAAAAAAGGTGGTGGAGAATGGGGCCCTTCTCTCCTGG       c.780
 F  M  A  G  P  G  N  A  K  K  V  V  E  N  G  A  L  L  S  W         p.260

          .         .         .         .         .         .       g.66220
 AAGCTGGGCTGCTCCCTGAACCAGAACAGTGTGCCTGACATTCATGGTGTAGAGGCCCCT       c.840
 K  L  G  C  S  L  N  Q  N  S  V  P  D  I  H  G  V  E  A  P         p.280

          .         .         .         .         .         .       g.66280
 GCCAGGGAGGGCGCAATGTCTGCTCAGCTTGGCTACCCTGTGGTGGGTTGGCACATCGCC       c.900
 A  R  E  G  A  M  S  A  Q  L  G  Y  P  V  V  G  W  H  I  A         p.300

          .         .         .         .         .         .       g.66340
 AATAAGAAGCCCCCTCTTCCCAAACGCGTCCGGAGGCAGATCCATGCTACACCCACACCT       c.960
 N  K  K  P  P  L  P  K  R  V  R  R  Q  I  H  A  T  P  T  P         p.320

          .         .         .         .         .         .       g.66400
 GTCACTGCCATTGGGCCCCCAACCACGGCTATCCAGGAGCCCCCATCCAGGATCGTGCCA       c.1020
 V  T  A  I  G  P  P  T  T  A  I  Q  E  P  P  S  R  I  V  P         p.340

          .         .         .         .         .         .       g.66460
 ACCCCCACATCTCCAGCCATTGCTCCTCCAACAGAGACCATGGCTCCTCCAGTCAGGGAT       c.1080
 T  P  T  S  P  A  I  A  P  P  T  E  T  M  A  P  P  V  R  D         p.360

          .         .         .         .         .         .       g.66520
 CCTGTTCCTGGGAAACCCACGGTCACCATCCGGACTCGAGGCGCCATTATTCAAACCCCA       c.1140
 P  V  P  G  K  P  T  V  T  I  R  T  R  G  A  I  I  Q  T  P         p.380

          .         .         .         .         .         .       g.66580
 ACCCTAGGCCCCATCCAGCCTACTCGGGTGTCAGAAGCTGGCACCACAGTTCCTGGCCAG       c.1200
 T  L  G  P  I  Q  P  T  R  V  S  E  A  G  T  T  V  P  G  Q         p.400

          .         .         .         .         .         .       g.66640
 ATTCGCCCAACGATGACCATTCCTGGCTATGTGGAGCCTACTGCAGTTGCTACCCCTCCC       c.1260
 I  R  P  T  M  T  I  P  G  Y  V  E  P  T  A  V  A  T  P  P         p.420

          .         .         .         .         .         .       g.66700
 ACAACCACCACCAAGAAGCCACGAGTATCCACACCAAAACCAGCAACGCCTTCAACTGAC       c.1320
 T  T  T  T  K  K  P  R  V  S  T  P  K  P  A  T  P  S  T  D         p.440

          .         .         .         .         .         .       g.66760
 TCCACCACCACCACGACTCGCAGGCCAACCAAGAAACCACGGACACCCCGGCCAGTGCCC       c.1380
 S  T  T  T  T  T  R  R  P  T  K  K  P  R  T  P  R  P  V  P         p.460

          .         .         .         .         .         .       g.66820
 CGGGTCACCACCAAAGTTTCCATCACCAGATTGGAAACTGCCTCACCGCCTACTCGTATT       c.1440
 R  V  T  T  K  V  S  I  T  R  L  E  T  A  S  P  P  T  R  I         p.480

          .         .         .         .         .         .       g.66880
 CGCACCACCACCAGTGGAGTGCCCCGTGGCGGAGAACCCAACCAGCGCCCAGAGCTCAAG       c.1500
 R  T  T  T  S  G  V  P  R  G  G  E  P  N  Q  R  P  E  L  K         p.500

          .         .         .         .         .         .       g.66940
 AACCATATTGACAGGGTAGATGCCTGGGTTGGCACCTACTTTGAGGTGAAGATCCCGTCA       c.1560
 N  H  I  D  R  V  D  A  W  V  G  T  Y  F  E  V  K  I  P  S         p.520

          .         .         .         .         .         .       g.67000
 GACACTTTCTATGACCATGAGGACACCACCACTGACAAGCTGAAGCTGACCCTGAAACTG       c.1620
 D  T  F  Y  D  H  E  D  T  T  T  D  K  L  K  L  T  L  K  L         p.540

          .         .         .         .         .         .       g.67060
 CGGGAGCAGCAGCTGGTGGGCGAGAAGTCCTGGGTACAGTTCAACAGCAACAGCCAGCTC       c.1680
 R  E  Q  Q  L  V  G  E  K  S  W  V  Q  F  N  S  N  S  Q  L         p.560

          .         .         .         .         .         .       g.67120
 ATGTATGGCCTTCCCGACAGCAGCCACGTGGGCAAACACGAGTATTTCATGCATGCCACA       c.1740
 M  Y  G  L  P  D  S  S  H  V  G  K  H  E  Y  F  M  H  A  T         p.580

          .         .         .         .         .         .       g.67180
 GACAAGGGGGGCCTGTCGGCTGTGGATGCCTTCGAGATCCACGTCCACAGGCGCCCCCAA       c.1800
 D  K  G  G  L  S  A  V  D  A  F  E  I  H  V  H  R  R  P  Q         p.600

          .         .         .         .         .         .       g.67240
 GGGGATAGGGCTCCTGCAAGGTTCAAGGCCAAGTTTGTGGGTGACCCGGCACTGGTGTTG       c.1860
 G  D  R  A  P  A  R  F  K  A  K  F  V  G  D  P  A  L  V  L         p.620

          .         .         .         .         .         .       g.67300
 AATGACATCCACAAGAAGATTGCCTTGGTAAAGAAACTGGCCTTCGCCTTTGGAGACCGA       c.1920
 N  D  I  H  K  K  I  A  L  V  K  K  L  A  F  A  F  G  D  R         p.640

          .         .         .         .         .         .       g.67360
 AACTGTAGCACCATCACCCTGCAGAATATCACCCGGGGCTCCATCGTGGTGGAATGGACC       c.1980
 N  C  S  T  I  T  L  Q  N  I  T  R  G  S  I  V  V  E  W  T         p.660

          .         .         .         .         .         .       g.67420
 AACAACACACTGCCCTTGGAGCCCTGCCCCAAGGAGCAGATCGCTGGGCTGAGCCGCCGG       c.2040
 N  N  T  L  P  L  E  P  C  P  K  E  Q  I  A  G  L  S  R  R         p.680

          .         .         .         .         .         .       g.67480
 ATCGCTGAGGATGATGGAAAACCTCGGCCTGCCTTCTCCAACGCCCTAGAGCCTGACTTT       c.2100
 I  A  E  D  D  G  K  P  R  P  A  F  S  N  A  L  E  P  D  F         p.700

          .         .         .         .         .         .       g.67540
 AAGGCCACAAGCATCACTGTGACGGGCTCTGGCAGTTGTCGGCACCTACAGTTTATCCCT       c.2160
 K  A  T  S  I  T  V  T  G  S  G  S  C  R  H  L  Q  F  I  P         p.720

          .         .         .         .         .         .       g.67600
 GTGGTACCACCCAGGAGAGTGCCCTCAGAGGCGCCGCCCACAGAAGTGCCTGACAGGGAC       c.2220
 V  V  P  P  R  R  V  P  S  E  A  P  P  T  E  V  P  D  R  D         p.740

          .         .         .         .         .         .       g.67660
 CCTGAGAAGAGCAGTGAGGATGATGTCTACCTGCACACAGTCATTCCGGCCGTGGTGGTC       c.2280
 P  E  K  S  S  E  D  D  V  Y  L  H  T  V  I  P  A  V  V  V         p.760

          .         .         .         .         .         .       g.67720
 GCAGCCATCCTGCTCATTGCTGGCATCATTGCCATGATCTGCTACCGCAAGAAGCGGAAG       c.2340
 A  A  I  L  L  I  A  G  I  I  A  M  I  C  Y  R  K  K  R  K         p.780

          .         .         .         .         .         .       g.67780
 GGCAAGCTTACCCTTGAGGACCAGGCCACCTTCATCAAGAAGGGGGTGCCTATCATCTTT       c.2400
 G  K  L  T  L  E  D  Q  A  T  F  I  K  K  G  V  P  I  I  F         p.800

          .         .         .         .         .         .       g.67840
 GCAGACGAACTGGACGACTCCAAGCCCCCACCCTCCTCCAGCATGCCACTCATTCTGCAG       c.2460
 A  D  E  L  D  D  S  K  P  P  P  S  S  S  M  P  L  I  L  Q         p.820

          .         .         .         .         .         .       g.67900
 GAGGAGAAGGCTCCCCTACCCCCTCCTGAGTACCCCAACCAGAGTGTGCCCGAGACCACT       c.2520
 E  E  K  A  P  L  P  P  P  E  Y  P  N  Q  S  V  P  E  T  T         p.840

          .         .         .         .         .         .       g.67960
 CCTCTGAACCAGGACACCATGGGAGAGTACACGCCCCTGCGGGATGAGGATCCCAATGCG       c.2580
 P  L  N  Q  D  T  M  G  E  Y  T  P  L  R  D  E  D  P  N  A         p.860

          .         .         .         .         .         .       g.68020
 CCTCCCTACCAGCCCCCACCGCCCTTCACAGCACCCATGGAGGGCAAGGGCTCCCGTCCC       c.2640
 P  P  Y  Q  P  P  P  P  F  T  A  P  M  E  G  K  G  S  R  P         p.880

          .         .         .         .                           g.68068
 AAGAACATGACCCCATACCGGTCACCTCCTCCCTATGTCCCACCTTAA                   c.2688
 K  N  M  T  P  Y  R  S  P  P  P  Y  V  P  P  X                     p.895

          .         .         .         .         .         .       g.68128
 cccgcaagcgcctgggtggaggcagggtagggcaggggcctggagacgacatggtgttgt       c.*60

          .         .         .         .         .         .       g.68188
 ctgtggagaccggtggcctgcagaccattgcccaccgggagccgacacctgacctagcac       c.*120

          .         .         .         .         .         .       g.68248
 acactgacacaggggcctggacaagcccgccctctctggtcctcccaaaccccaaagcag       c.*180

          .         .         .         .         .         .       g.68308
 ctggagagactttggggacttttttatttttattttttgcctaacagcttttggtttgtt       c.*240

          .         .         .         .         .         .       g.68368
 catagagaattcttcgcttcatttttgatggctggctctgaaagcaccatgtggagtgga       c.*300

          .         .         .         .         .         .       g.68428
 ggtggagggagcgaggaaccatgaatgaactcgcaggcagtgccgggcggccccctggct       c.*360

          .         .         .         .         .         .       g.68488
 ctctgcgttttgcctttaacactaactgtactgttttttctattcacgtgtgtctagctg       c.*420

          .         .         .         .         .         .       g.68548
 caggatgtaacatggaaaacagtaactaaagattaaattcaaaggactttcagaagttaa       c.*480

          .         .         .         .         .         .       g.68608
 ggttaagtttttacgtttaatctgctgtttacctaaacttgtatgtataatttttgggtg       c.*540

          .         .         .         .         .         .       g.68668
 ggtatggggaattgctttgctaaaaataagctcccagggtgtttcaaacttagagaagac       c.*600

          .         .         .         .         .         .       g.68728
 caagggacagtattttttatcaaaggaatactattttttcacactacgtcaacttggttg       c.*660

          .         .         .         .         .         .       g.68788
 ctctgataccccagagcctgattgggggcctcccggccctggctcacgccaagtccctgg       c.*720

          .         .         .         .         .         .       g.68848
 tgctgggtttgctctcccgctgttgccaggggctggaagctggaggggtctcttgggcca       c.*780

          .         .         .         .         .         .       g.68908
 tggacatccccacttccagcccatgtacactagtggcccacgaccaaggggtcttcattt       c.*840

          .         .         .         .         .         .       g.68968
 ccatgaaaaagggactccaagaggcagtggtggctgtggcccccaactttggtgctccag       c.*900

          .         .         .         .         .         .       g.69028
 ggtgggccagctgcttgtgggggcacctgggaggtcaaaggtctccaccacatcaaccta       c.*960

          .         .         .         .         .         .       g.69088
 ttttgttttaccctttttctgtgcattgtttttttttttcctcctaaaaggaatatcacg       c.*1020

          .         .         .         .         .         .       g.69148
 gttttttgaaacactcagtgggggacattttggtgaagatgcaatatttttatgtcatgt       c.*1080

          .         .         .         .         .         .       g.69208
 gatgctctttcctcacttgaccttggccgctttgtcctaacagtccacagtcctgccccg       c.*1140

          .         .         .         .         .         .       g.69268
 acccaccccatcccttttctctggcactccagtcccaggccttgggcctgaactactgga       c.*1200

          .         .         .         .         .         .       g.69328
 aaaggtctggcggctggggaggagtgccagcaatagttcataataaaaatctgttagctc       c.*1260

          .         .         .         .         .         .       g.69388
 tcaaagctaattttttactaaagtttttatacagcctcaaattgttttattaaaaaaaag       c.*1320

          .         .         .         .         .         .       g.69448
 atttaaaatggtgatgcttacagcagtttgtacgagctcttaagtgttgattccatggaa       c.*1380

          .         .         .         .         .         .       g.69508
 ctgacggctttgcttgttttgattcttttccccctacttttcctaatggtttaaattctg       c.*1440

          .         .         .         .         .         .       g.69568
 gaattacactggggttcttttgccttttttagcagaacatccgtccgtccatctgcatct       c.*1500

          .         .         .         .         .         .       g.69628
 ctgtcccatgactcaggggcgcccactctgcttcgattctcctcctgtggaagaaaccat       c.*1560

          .         .         .         .         .         .       g.69688
 tttgagcatgacttttcttgatgtctgaagcgttattttgggtactttttagggaggaat       c.*1620

          .         .         .         .         .         .       g.69748
 gcctttcgcaataatgtatccattccctgattgagggtgggtgggtggacccaggctccc       c.*1680

          .         .         .         .         .         .       g.69808
 tttgcacacagagcagctacttctaagccatatcgactgttttgcagaggatttgtgtgt       c.*1740

          .         .         .         .         .         .       g.69868
 gctgcctcaggaggggagggctggtaggagggggggagaggtctctgtcctactgctctc       c.*1800

          .         .         .         .         .         .       g.69928
 cagagggcatttccccttgcgccttctcccacagggcccagcccctctcccctgccccag       c.*1860

          .         .         .         .         .         .       g.69988
 tccccagggggtactctggagtgagcagtgcccctgtgggggagcctgtaaatgcgggct       c.*1920

          .         .         .         .         .         .       g.70048
 cagtggaccactggtgactgggctcatgcctccaagtcagagtttccctggtgccccaga       c.*1980

          .         .         .         .         .         .       g.70108
 gacaggagcacaagtgggatctgacctggtgagattatttctgatgacctcatcaaaaaa       c.*2040

          .         .         .         .         .         .       g.70168
 taaacaattcccaatgttccaggtgagggctttgaaaggccttccaaacagctccgtcgc       c.*2100

          .         .         .         .         .         .       g.70228
 ccctagcaactccaccattgggcactgccatgcagagacgtggctggcccagaatggcct       c.*2160

          .         .         .         .         .         .       g.70288
 gttgccatagcaactggaggcgatggggcagtgaacagaataacaacagcaacaatgcct       c.*2220

          .         .         .         .         .         .       g.70348
 ttgcaggcagcctgctcccctgagcgctgggctggtgatggtcgttggactctgtgagat       c.*2280

          .         .         .         .         .         .       g.70408
 ggagagccaatctcacattcaagtgttcaccaaccactgatgtgtttttatttccttcta       c.*2340

          .         .         .         .         .         .       g.70468
 tatgattttaagatgtgttttctgcattctgtaaagaaacatatcaaactaaataaaagc       c.*2400

          .                                                         g.70484
 agtgtctttattacaa                                                   c.*2416

 (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 Dystrophin-Associated Glycoprotein 1 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 mutations, 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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