dolichol kinase (DOLK) - coding DNA reference sequence

(used for variant description)

(last modified March 20, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_014908.3 in the DOLK gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_017009.1, covering DOLK transcript NM_014908.3.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
                                                   .                g.5010
                                                   gcggccgccg       c.-421

 .         .         .         .         .         .                g.5070
 ccatcttcgcgcgcccgctcgccctaaccccgcccccagacgccatgcccacgtgaccgc       c.-361

 .         .         .         .         .         .                g.5130
 tcgcccccggacccggagcgtgggcggggatttcgtcacgtgacgttgccgcggggcggt       c.-301

 .         .         .         .         .         .                g.5190
 gccaagatggcgaggcccaaagaggtgaggagccggcagcgggggcggctgtaactgtga       c.-241

 .         .         .         .         .         .                g.5250
 ggaaggctgcagagtggcgacgtctacgccgtaggttggaggctgtggggggtggccggg       c.-181

 .         .         .         .         .         .                g.5310
 cgccagctcccaggccgcagaagtgacctgcggtggagttccctcctcgctgctggagaa       c.-121

 .         .         .         .         .         .                g.5370
 cggagggagaaggttgctggccgggtgaaagtgcctccctctgcttgacggggctgaggg       c.-61

 .         .         .         .         .         .                g.5430
 gcccgaagtctagggcgtccgtagtcgccccggcctccgtgaagccccaggtctagagat       c.-1

          .         .         .         .         .         .       g.5490
 ATGACCCGAGAGTGCCCATCTCCGGCCCCGGGGCCTGGGGCTCCGCTGAGTGGATCGGTG       c.60
 M  T  R  E  C  P  S  P  A  P  G  P  G  A  P  L  S  G  S  V         p.20

          .         .         .         .         .         .       g.5550
 CTGGCAGAGGCGGCAGTAGTGTTTGCAGTGGTGCTGAGCATCCACGCAACCGTATGGGAC       c.120
 L  A  E  A  A  V  V  F  A  V  V  L  S  I  H  A  T  V  W  D         p.40

          .         .         .         .         .         .       g.5610
 CGATACTCGTGGTGCGCCGTGGCCCTCGCAGTGCAGGCCTTCTACGTCCAATACAAGTGG       c.180
 R  Y  S  W  C  A  V  A  L  A  V  Q  A  F  Y  V  Q  Y  K  W         p.60

          .         .         .         .         .         .       g.5670
 GACCGGCTGCTACAGCAGGGAAGCGCCGTCTTCCAGTTCCGAATGTCCGCAAACAGTGGC       c.240
 D  R  L  L  Q  Q  G  S  A  V  F  Q  F  R  M  S  A  N  S  G         p.80

          .         .         .         .         .         .       g.5730
 CTATTGCCCGCCTCCATGGTCATGCCTTTGCTTGGACTAGTCATGAAGGAGCGGTGCCAG       c.300
 L  L  P  A  S  M  V  M  P  L  L  G  L  V  M  K  E  R  C  Q         p.100

          .         .         .         .         .         .       g.5790
 ACTGCTGGGAACCCGTTCTTTGAGCGTTTTGGCATTGTGGTGGCAGCCACTGGCATGGCA       c.360
 T  A  G  N  P  F  F  E  R  F  G  I  V  V  A  A  T  G  M  A         p.120

          .         .         .         .         .         .       g.5850
 GTGGCCCTCTTCTCATCAGTGTTGGCGCTCGGCATCACTCGCCCAGTGCCAACCAACACT       c.420
 V  A  L  F  S  S  V  L  A  L  G  I  T  R  P  V  P  T  N  T         p.140

          .         .         .         .         .         .       g.5910
 TGTGTCATCTTGGGCTTGGCTGGAGGTGTTATCATTTATATCATGAAGCACTCGTTGAGC       c.480
 C  V  I  L  G  L  A  G  G  V  I  I  Y  I  M  K  H  S  L  S         p.160

          .         .         .         .         .         .       g.5970
 GTGGGGGAGGTGATCGAAGTCCTGGAAGTCCTTCTGATCTTCGTTTATCTCAACATGATC       c.540
 V  G  E  V  I  E  V  L  E  V  L  L  I  F  V  Y  L  N  M  I         p.180

          .         .         .         .         .         .       g.6030
 CTGCTGTACCTGCTGCCCCGCTGCTTCACCCCTGGTGAGGCACTGCTGGTATTGGGTGGC       c.600
 L  L  Y  L  L  P  R  C  F  T  P  G  E  A  L  L  V  L  G  G         p.200

          .         .         .         .         .         .       g.6090
 ATTAGCTTTGTCCTCAACCAGCTCATCAAGCGCTCTCTGACACTGGTGGAAAGTCAGGGG       c.660
 I  S  F  V  L  N  Q  L  I  K  R  S  L  T  L  V  E  S  Q  G         p.220

          .         .         .         .         .         .       g.6150
 GACCCAGTGGACTTCTTCCTGCTGGTGGTGGTAGTAGGGATGGTACTCATGGGCATTTTC       c.720
 D  P  V  D  F  F  L  L  V  V  V  V  G  M  V  L  M  G  I  F         p.240

          .         .         .         .         .         .       g.6210
 TTCAGCACTCTGTTTGTCTTCATGGACTCAGGCACCTGGGCCTCCTCCATCTTCTTCCAC       c.780
 F  S  T  L  F  V  F  M  D  S  G  T  W  A  S  S  I  F  F  H         p.260

          .         .         .         .         .         .       g.6270
 CTCATGACCTGTGTGCTGAGCCTTGGTGTGGTCCTACCCTGGCTGCACCGGCTCATCCGC       c.840
 L  M  T  C  V  L  S  L  G  V  V  L  P  W  L  H  R  L  I  R         p.280

          .         .         .         .         .         .       g.6330
 AGGAATCCCCTGCTCTGGCTTCTTCAGTTTCTCTTCCAGACAGACACCCGCATCTACCTC       c.900
 R  N  P  L  L  W  L  L  Q  F  L  F  Q  T  D  T  R  I  Y  L         p.300

          .         .         .         .         .         .       g.6390
 CTAGCCTATTGGTCTCTGCTGGCCACCTTGGCCTGCCTGGTGGTGCTGTACCAGAATGCC       c.960
 L  A  Y  W  S  L  L  A  T  L  A  C  L  V  V  L  Y  Q  N  A         p.320

          .         .         .         .         .         .       g.6450
 AAGCGGTCATCTTCCGAGTCCAAGAAGCACCAGGCCCCCACCATCGCCCGAAAGTATTTC       c.1020
 K  R  S  S  S  E  S  K  K  H  Q  A  P  T  I  A  R  K  Y  F         p.340

          .         .         .         .         .         .       g.6510
 CACCTCATTGTGGTAGCCACCTACATCCCAGGTATCATCTTTGACCGGCCACTGCTCTAT       c.1080
 H  L  I  V  V  A  T  Y  I  P  G  I  I  F  D  R  P  L  L  Y         p.360

          .         .         .         .         .         .       g.6570
 GTAGCCGCCACTGTATGCCTGGCGGTCTTCATCTTCCTGGAGTATGTGCGCTACTTCCGC       c.1140
 V  A  A  T  V  C  L  A  V  F  I  F  L  E  Y  V  R  Y  F  R         p.380

          .         .         .         .         .         .       g.6630
 ATCAAGCCTTTGGGTCACACTCTACGGAGCTTCCTGTCCCTTTTTCTGGATGAACGAGAC       c.1200
 I  K  P  L  G  H  T  L  R  S  F  L  S  L  F  L  D  E  R  D         p.400

          .         .         .         .         .         .       g.6690
 AGTGGACCACTCATTCTGACACACATCTACCTGCTCCTGGGCATGTCTCTTCCCATCTGG       c.1260
 S  G  P  L  I  L  T  H  I  Y  L  L  L  G  M  S  L  P  I  W         p.420

          .         .         .         .         .         .       g.6750
 CTGATCCCCAGACCCTGCACACAGAAGGGTAGCCTGGGAGGAGCCAGGGCCCTCGTCCCC       c.1320
 L  I  P  R  P  C  T  Q  K  G  S  L  G  G  A  R  A  L  V  P         p.440

          .         .         .         .         .         .       g.6810
 TATGCCGGTGTCCTGGCTGTGGGTGTGGGTGATACTGTGGCCTCCATCTTCGGTAGCACC       c.1380
 Y  A  G  V  L  A  V  G  V  G  D  T  V  A  S  I  F  G  S  T         p.460

          .         .         .         .         .         .       g.6870
 ATGGGGGAGATCCGCTGGCCTGGAACCAAAAAGACTTTTGAGGGGACCATGACATCTATA       c.1440
 M  G  E  I  R  W  P  G  T  K  K  T  F  E  G  T  M  T  S  I         p.480

          .         .         .         .         .         .       g.6930
 TTTGCGCAGATCATTTCTGTAGCTCTGATCTTAATCTTTGACAGTGGAGTGGACCTAAAC       c.1500
 F  A  Q  I  I  S  V  A  L  I  L  I  F  D  S  G  V  D  L  N         p.500

          .         .         .         .         .         .       g.6990
 TACAGTTATGCTTGGATTTTGGGGTCCATCAGCACTGTGTCCCTCCTGGAAGCATACACT       c.1560
 Y  S  Y  A  W  I  L  G  S  I  S  T  V  S  L  L  E  A  Y  T         p.520

          .         .         .         .         .                 g.7047
 ACACAGATAGACAATCTCCTTCTGCCTCTCTACCTCCTGATATTGCTGATGGCCTAG          c.1617
 T  Q  I  D  N  L  L  L  P  L  Y  L  L  I  L  L  M  A  X            p.538

          .         .         .         .         .         .       g.7107
 ctgttacagtgcagcagcagtgacggaggaaacagacatggggagggtgaacagtcccca       c.*60

          .         .         .         .         .         .       g.7167
 cagcagacagctacttgggcatgaagagccaaggtgtgaaaagcagatttgatttttcag       c.*120

          .         .         .                                     g.7204
 ttgattcagatttaaaataaaaagcaaagctctccta                              c.*157

 (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 10^th nucleotide is indicated by a "." above the sequence. The Dolichol kinase protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th 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.