Choline kinase beta (CHKB) - coding DNA reference sequence

(used for mutation description)

(last modified March 2, 2012)


This file was created to facilitate the description of sequence variants in the CHKB gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_029213.1, covering CHKB transcript NM_005198.4.

Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5038
                       agagatctgcggaattcggccttcggaaagagcccccg       c.-181

 .         .         .         .         .         .                g.5098
 ggccggggcacggagagagccgagcgccgcagccgtgagccgaatagagccggagagacc       c.-121

 .         .         .         .         .         .                g.5158
 cgagtatgaccggagaagcccaggccggccggaagaggagccgagcgcggccggaaggaa       c.-61

 .         .         .         .         .         .                g.5218
 ccgagcccgtccgaagggagcggagcgcagcctggcctggggcccggtcgagcccgcgcc       c.-1

          .         .         .         .         .         .       g.5278
 ATGGCGGCCGAGGCGACAGCTGTGGCCGGAAGCGGGGCTGTTGGCGGCTGCCTGGCCAAA       c.60
 M  A  A  E  A  T  A  V  A  G  S  G  A  V  G  G  C  L  A  K         p.20

          .         .         .         .         .         .       g.5338
 GACGGCTTGCAGCAGTCTAAGTGCCCGGACACTACCCCAAAACGGCGGCGCGCCTCGTCG       c.120
 D  G  L  Q  Q  S  K  C  P  D  T  T  P  K  R  R  R  A  S  S         p.40

          .         .         .         .         .         .       g.5398
 CTGTCGCGTGACGCCGAGCGCCGAGCCTACCAATGGTGCCGGGAGTACTTGGGCGGGGCC       c.180
 L  S  R  D  A  E  R  R  A  Y  Q  W  C  R  E  Y  L  G  G  A         p.60

          .         .         .         .     | 02   .         .    g.5658
 TGGCGCCGAGTGCAGCCCGAGGAGCTGAGGGTTTACCCCGTGAG | CGGAGGCCTCAGCAAC    c.240
 W  R  R  V  Q  P  E  E  L  R  V  Y  P  V  S  |  G  G  L  S  N      p.80

          .         .         .         .         .         .       g.5718
 CTGCTCTTCCGCTGCTCGCTCCCGGACCACCTGCCCAGCGTTGGCGAGGAGCCCCGGGAG       c.300
 L  L  F  R  C  S  L  P  D  H  L  P  S  V  G  E  E  P  R  E         p.100

          .         .         .    | 03    .         .         .    g.6164
 GTGCTTCTGCGGCTGTACGGAGCCATCTTGCAG | GGCGTGGACTCCCTGGTGCTAGAAAGC    c.360
 V  L  L  R  L  Y  G  A  I  L  Q   | G  V  D  S  L  V  L  E  S      p.120

          .         .         .         .         .         .       g.6224
 GTGATGTTCGCCATACTTGCGGAGCGGTCGCTGGGGCCCCAGCTGTACGGAGTCTTCCCA       c.420
 V  M  F  A  I  L  A  E  R  S  L  G  P  Q  L  Y  G  V  F  P         p.140

          .         .        | 04.         .         .         .    g.6479
 GAGGGCCGGCTGGAACAGTACATCCCA | AGTCGGCCATTGAAAACTCAAGAGCTTCGAGAG    c.480
 E  G  R  L  E  Q  Y  I  P   | S  R  P  L  K  T  Q  E  L  R  E      p.160

          .         .         .         .         .         .       g.6539
 CCAGTGTTGTCAGCAGCCATTGCCACGAAGATGGCGCAATTTCATGGCATGGAGATGCCT       c.540
 P  V  L  S  A  A  I  A  T  K  M  A  Q  F  H  G  M  E  M  P         p.180

          .         .         .         .  | 05      .         .    g.7358
 TTCACCAAGGAGCCCCACTGGCTGTTTGGGACCATGGAGCG | GTACCTAAAACAGATCCAG    c.600
 F  T  K  E  P  H  W  L  F  G  T  M  E  R  |  Y  L  K  Q  I  Q      p.200

          .         .         .         .         .         .       g.7418
 GACCTGCCCCCAACTGGCCTCCCTGAGATGAACCTGCTGGAGATGTACAGCCTGAAGGAT       c.660
 D  L  P  P  T  G  L  P  E  M  N  L  L  E  M  Y  S  L  K  D         p.220

          .        | 06.         .         .         .         .    g.7626
 GAGATGGGCAACCTCAG | GAAGTTACTAGAGTCTACCCCATCGCCAGTCGTCTTCTGCCAC    c.720
 E  M  G  N  L  R  |  K  L  L  E  S  T  P  S  P  V  V  F  C  H      p.240

          .       | 07 .         .         .         .         .    g.7772
 AATGACATCCAGGAAG | GGAACATCTTGCTGCTCTCAGAGCCAGAAAATGCTGACAGCCTC    c.780
 N  D  I  Q  E  G |   N  I  L  L  L  S  E  P  E  N  A  D  S  L      p.260

          .         .         .         | 08         .         .    g.7939
 ATGCTGGTGGACTTCGAGTACAGCAGTTATAACTATAG | GGGCTTTGACATTGGGAACCAT    c.840
 M  L  V  D  F  E  Y  S  S  Y  N  Y  R  |  G  F  D  I  G  N  H      p.280

          .         .         .         .         .         .       g.7999
 TTTTGTGAGTGGGTTTATGATTATACTCACGAGGAATGGCCTTTCTACAAAGCAAGGCCC       c.900
 F  C  E  W  V  Y  D  Y  T  H  E  E  W  P  F  Y  K  A  R  P         p.300

          .         .        | 09.         .         .         .    g.8202
 ACAGACTACCCCACTCAAGAACAGCAG | TTGCATTTTATTCGTCATTACCTGGCAGAGGCA    c.960
 T  D  Y  P  T  Q  E  Q  Q   | L  H  F  I  R  H  Y  L  A  E  A      p.320

          .         .         .         .         .         .       g.8262
 AAGAAAGGTGAGACCCTCTCCCAAGAGGAGCAGAGAAAACTGGAAGAAGATTTGCTGGTA       c.1020
 K  K  G  E  T  L  S  Q  E  E  Q  R  K  L  E  E  D  L  L  V         p.340

          .  | 10      .         .         .         .         .    g.8541
 GAAGTCAGTCG | GTATGCTCTGGCATCCCATTTCTTCTGGGGTCTGTGGTCCATCCTCCAG    c.1080
 E  V  S  R  |  Y  A  L  A  S  H  F  F  W  G  L  W  S  I  L  Q      p.360

          .         .         .    | 11    .         .         .    g.8771
 GCATCCATGTCCACCATAGAATTTGGTTACTTG | GACTATGCCCAGTCTCGGTTCCAGTTC    c.1140
 A  S  M  S  T  I  E  F  G  Y  L   | D  Y  A  Q  S  R  F  Q  F      p.380

          .         .         .         .                           g.8819
 TACTTCCAGCAGAAGGGGCAGCTGACCAGTGTCCACTCCTCATCCTGA                   c.1188
 Y  F  Q  Q  K  G  Q  L  T  S  V  H  S  S  S  X                     p.395

          .         .         .         .         .         .       g.8879
 ctccaccctcccactccttggatttctcctggagcctccagggcaggaccttggagggag       c.*60

          .         .         .         .         .         .       g.8939
 gaacaacgagcagaaggccctggcgactgggctgagcccccaagtgaaactgaggttcag       c.*120

          .         .         .         .         .         .       g.8999
 gagaccggcctgttcctgagtttgagtaggtccccatggctggcaggccagagccccgtg       c.*180

          .         .         .         .                           g.9042
 ctgtgtatgtaacacaataaacaagcttcttcttcccaccctg                        c.*223

 (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 Choline kinase beta 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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