Docking protein 7 (DOK7) - coding DNA reference sequence

(used for mutation description)

(last modified January 4, 2010)


This file was created to facilitate the description of sequence variants in the DOK7 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_013072.1, covering DOK7 transcipt NM_173660.4. Selcen et al. (2008) report differential splicing of exons 3+4 in 5-10% of transcripts in about half of control individuals.

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

 .         .         .         .         .         .                g.5070
 gaaagtgaccctgggctggggcgccggggcgagcgcggcggcgcggaaccatgacagaag       c.-1

          .         .         .         .         .     | 02   .    g.5206
 ATGACCGAGGCGGCGCTGGTGGAGGGCCAGGTCAAGCTGCGGGACGGCAAGAAG | TGGAAG    c.60
 M  T  E  A  A  L  V  E  G  Q  V  K  L  R  D  G  K  K   | W  K      p.20

          .         .         .         . | 03       .         .    g.15120
 AGTAGGTGGCTGGTGCTGCGGAAGCCGTCGCCCGTGGCAG | ACTGCCTGCTGATGCTGGTC    c.120
 S  R  W  L  V  L  R  K  P  S  P  V  A  D |   C  L  L  M  L  V      p.40

          .         .         .         .         .         .       g.15180
 TACAAGGACAAGTCGGAGCGTATCAAGGGCCTGCGGGAGCGCAGCAGCCTGACGCTAGAG       c.180
 Y  K  D  K  S  E  R  I  K  G  L  R  E  R  S  S  L  T  L  E         p.60

          .         .         .         .         .         .       g.15240
 GACATCTGCGGGCTGGAGCCCGGCCTGCCCTACGAGGGCCTGGTCCACACGCTGGCCATT       c.240
 D  I  C  G  L  E  P  G  L  P  Y  E  G  L  V  H  T  L  A  I         p.80

          .         .         .         .         .         .       g.15300
 GTCTGCCTGTCCCAGGCCATCATGCTGGGCTTTGACAGCCACGAGGCCATGTGTGCGTGG       c.300
 V  C  L  S  Q  A  I  M  L  G  F  D  S  H  E  A  M  C  A  W         p.100

          .         .         .  | 04      .         .         .    g.18065
 GATGCCCGGATCCGCTATGCGCTCGGCGAGG | TGCATAGGTTCCATGTGACAGTGGCTCCA    c.360
 D  A  R  I  R  Y  A  L  G  E  V |   H  R  F  H  V  T  V  A  P      p.120

          .         .         .         .         .         .       g.18125
 GGCACCAAGTTGGAGAGCGGCCCGGCTACCCTGCACCTCTGCAATGATGTCCTCGTCTTG       c.420
 G  T  K  L  E  S  G  P  A  T  L  H  L  C  N  D  V  L  V  L         p.140

          .         .         .         .         .         .       g.18185
 GCCAGGGACATCCCCCCGGCTGTCACGGGGCAGTGGAAGCTGTCTGACCTCCGGCGCTAC       c.480
 A  R  D  I  P  P  A  V  T  G  Q  W  K  L  S  D  L  R  R  Y         p.160

          .         .         .         .         .   | 05     .    g.27241
 GGGGCCGTGCCAAGCGGATTCATCTTTGAAGGCGGGACCAGGTGTGGGTACT | GGGCTGGC    c.540
 G  A  V  P  S  G  F  I  F  E  G  G  T  R  C  G  Y  W |   A  G      p.180

          .         .         .         .         .         .       g.27301
 GTCTTCTTCCTGTCCTCGGCCGAGGGGGAGCAGATCAGCTTCCTGTTCGACTGCATCGTC       c.600
 V  F  F  L  S  S  A  E  G  E  Q  I  S  F  L  F  D  C  I  V         p.200

          .         .         .         .         .   | 06     .    g.31379
 CGAGGCATCTCCCCCACCAAGGGCCCCTTTGGGCTGCGGCCGGTTCTACCAG | ACCCAAGT    c.660
 R  G  I  S  P  T  K  G  P  F  G  L  R  P  V  L  P  D |   P  S      p.220

          .         .         .         .         .         .       g.31439
 CCCCCGGGACCCTCGACTGTGGAGGAGCGTGTGGCCCAGGAAGCCCTGGAAACCCTACAG       c.720
 P  P  G  P  S  T  V  E  E  R  V  A  Q  E  A  L  E  T  L  Q         p.240

          .         .         .         .         .   | 07     .    g.34461
 CTGGAGAAGCGGCTGAGCCTCCTCTCACATGCGGGCAGGCCGGGCAGTGGAG | GGGATGAC    c.780
 L  E  K  R  L  S  L  L  S  H  A  G  R  P  G  S  G  G |   D  D      p.260

          .         .         .         .         .         .       g.34521
 CGCAGCCTGTCCAGCTCATCCTCAGAGGCCAGTCACTTGGACGTCAGCGCCAGCAGCCGG       c.840
 R  S  L  S  S  S  S  S  E  A  S  H  L  D  V  S  A  S  S  R         p.280

          .         .         .         .         .         .       g.34581
 CTCACCGCATGGCCAGAGCAATCCTCGTCGTCAGCCAGCACGTCACAGGAGGGGCCTAGA       c.900
 L  T  A  W  P  E  Q  S  S  S  S  A  S  T  S  Q  E  G  P  R         p.300

          .         .         .         .         .         .       g.34641
 CCAGCAGCTGCCCAGGCCGCCGGGGAAGCCATGGTGGGTGCCTCAAGGCCACCCCCCAAG       c.960
 P  A  A  A  Q  A  A  G  E  A  M  V  G  A  S  R  P  P  P  K         p.320

          .         .         .         .         .         .       g.34701
 CCGCTGCGTCCGCGGCAGCTGCAGGAGGTTGGCCGCCAGAGCTCCTCGGACAGCGGCATC       c.1020
 P  L  R  P  R  Q  L  Q  E  V  G  R  Q  S  S  S  D  S  G  I         p.340

          .         .         .         .         .         .       g.34761
 GCCACTGGCAGCCACTCCTCTTACTCCAGCAGCCTCTCGTCCTACGCGGGCAGCAGCCTG       c.1080
 A  T  G  S  H  S  S  Y  S  S  S  L  S  S  Y  A  G  S  S  L         p.360

          .         .         .         .         .         .       g.34821
 GACGTGTGGCGGGCCACAGATGAACTGGGCTCACTGCTCAGCCTGCCAGCAGCGGGGGCC       c.1140
 D  V  W  R  A  T  D  E  L  G  S  L  L  S  L  P  A  A  G  A         p.380

          .         .         .         .         .         .       g.34881
 CCCGAGCCCAGCCTGTGCACCTGCCTGCCCGGGACAGTCGAGTACCAGGTGCCCACCTCC       c.1200
 P  E  P  S  L  C  T  C  L  P  G  T  V  E  Y  Q  V  P  T  S         p.400

          .         .         .         .         .         .       g.34941
 CTGCGGGCCCACTATGACACACCACGCAGCCTTTGCCTGGCTCCTAGAGACCACAGCCCC       c.1260
 L  R  A  H  Y  D  T  P  R  S  L  C  L  A  P  R  D  H  S  P         p.420

          .         .         .         .         .         .       g.35001
 CCCTCACAGGGCAGCCCCGGCAACAGTGCGGCCAGGGACTCAGGCGGCCAGACGTCCGCC       c.1320
 P  S  Q  G  S  P  G  N  S  A  A  R  D  S  G  G  Q  T  S  A         p.440

          .         .         .         .         .         .       g.35061
 GGGTGTCCCTCTGGCTGGCTGGGCACGAGACGGCGGGGCCTGGTGATGGAGGCCCCCCAG       c.1380
 G  C  P  S  G  W  L  G  T  R  R  R  G  L  V  M  E  A  P  Q         p.460

          .         .         .         .         .         .       g.35121
 GGCAGCGAGGCCACACTGCCTGGCCCTGCCCCTGGCGAGCCCTGGGAAGCAGGCGGCCCC       c.1440
 G  S  E  A  T  L  P  G  P  A  P  G  E  P  W  E  A  G  G  P         p.480

          .         .         .         .         .         .       g.35181
 CACGCGGGGCCACCCCCGGCTTTCTTTTCGGCATGTCCAGTCTGTGGAGGACTCAAGGTA       c.1500
 H  A  G  P  P  P  A  F  F  S  A  C  P  V  C  G  G  L  K  V         p.500

          .                                                         g.35196
 AACCCCCCTCCTTGA                                                    c.1515
 N  P  P  P  X                                                      p.504

          .         .         .         .         .         .       g.35256
 gagccgcagatcccgccccgcggctgcaaaggggctgaatttgcccccagatggcagagg       c.*60

          .         .         .         .         .         .       g.35316
 aagtggcgccagcctccttgcagactggtgctctgtgttctgtgggagggaccgggggtc       c.*120

          .         .         .         .         .         .       g.35376
 tcccggagaggggagctggagggcgcgccctgtggctgccaccggaggaaggggctgact       c.*180

          .         .         .         .         .         .       g.35436
 tggggaggtgagttctggaaggcaggggctctgggtccggcaggtcggggtcaccagagc       c.*240

          .         .         .         .         .         .       g.35496
 cccaatgctcagctgcttcactccgtgtcccccacccctgaggatcaggtgagtgctgca       c.*300

          .         .         .         .         .         .       g.35556
 cctctgttggctcgtgccttgcactggggtgccaagggctggaggccctgccgctggcct       c.*360

          .         .         .         .         .         .       g.35616
 tgtcctccttgggcctcacgcccccttcgggggtggccggttctccccatcacctctctg       c.*420

          .         .         .         .         .         .       g.35676
 gggcagtcacaccacctgttaagcatcaagctaccacagaggctccggccacctgggctc       c.*480

          .         .         .         .         .         .       g.35736
 caccagcccagcccccctgggctccgtgtgcgctgggcctcatccccatctatgggagga       c.*540

          .         .         .         .         .         .       g.35796
 aactgaagctcaggaggctgtgtggcttgcggggtctctgggttctgggccccactgttc       c.*600

          .         .         .         .         .         .       g.35856
 cccagtgaagcccttgtgggaaggttccgggagcaggtggtgtcctcagagcagcctcgc       c.*660

          .         .         .         .         .         .       g.35916
 ctgctgaccccactgggagaggcgccgtgcctcgggcccctggtgggagctctgctggct       c.*720

          .         .         .         .         .         .       g.35976
 cctgtctgaacctcctcgcagggccaaaggctggcttggcctgtgtttcccctggcccag       c.*780

          .         .         .         .         .         .       g.36036
 gcctcagcccctgcgtcggaggtggggctgtgttgggcccattgtcccccgccctgggtg       c.*840

          .         .         .         .         .         .       g.36096
 gcttcctcttgcacagcctggagcctgccctgaccacagcccagcagctccctgtgaaca       c.*900

          .         .         .         .         .         .       g.36156
 cctctttgtcccttcactgtcagctgtttctaaacccagacactgtttgtaatagactgg       c.*960

          .         .                                               g.36177
 aaataaaatgttctttcctta                                              c.*981

 (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 Docking protein 7 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.

Powered by LOVDv.2.0-23 Build 23
©2004-2010 Leiden University Medical Center