Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ) - coding DNA reference sequence

(used for mutation description)

(last modified February 12, 2011)


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

The sequence was taken from NG_009032.1, covering COLQ transcript NM_005677.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.5006
                                                       cacacg       c.-121

 .         .         .         .         .         .                g.5066
 cacacacacacacacaaacacacgcgcacgcaaacagcagtgaggaagagaaaagcagag       c.-61

 .         .         .         .         .         .                g.5126
 ataagcaaggctccgcagcagcctcctttctaacttgaccctcgccagaccctggccagc       c.-1

          .         .         .         .         .         .       g.5186
 ATGGTTGTCCTGAATCCAATGACTTTGGGAATTTATCTTCAGCTTTTCTTCCTCTCTATC       c.60
 M  V  V  L  N  P  M  T  L  G  I  Y  L  Q  L  F  F  L  S  I         p.20

          .         .         .         .       | 02 .         .    g.37128
 GTGTCTCAGCCGACTTTCATCAACAGCGTTCTTCCAATCTCAGCAG | CCCTTCCCAGCCTG    c.120
 V  S  Q  P  T  F  I  N  S  V  L  P  I  S  A  A |   L  P  S  L      p.40

          .         .         .         .         .         .       g.37188
 GATCAGAAGAAGCGTGGTGGCCACAAAGCATGCTGCCTGCTGACGCCTCCTCCACCACCA       c.180
 D  Q  K  K  R  G  G  H  K  A  C  C  L  L  T  P  P  P  P  P         p.60

          .         .         .          | 03        .         .    g.38465
 CTGTTCCCACCACCATTCTTCAGAGGTGGCCGAAGTCCG | CTTCTCTCCCCAGACATGAAG    c.240
 L  F  P  P  P  F  F  R  G  G  R  S  P   | L  L  S  P  D  M  K      p.80

          .         .         .         .         .         .       g.38525
 AATCTCATGCTGGAACTGGAGACCTCGCAGTCCCCGTGCATGCAAGGCTCGCTAGGCTCC       c.300
 N  L  M  L  E  L  E  T  S  Q  S  P  C  M  Q  G  S  L  G  S         p.100

          .         .  | 04      .         .         .         .    g.47408
 CCTGGGCCTCCCGGCCCCCAG | GGTCCACCGGGGCTTCCTGGCAAGACAGGACCAAAGGGA    c.360
 P  G  P  P  G  P  Q   | G  P  P  G  L  P  G  K  T  G  P  K  G      p.120

        | 05 .         .         .    | 06    .         .         . g.49581
 GAAAAG | GGGGAGCTTGGCCGACCAGGAAGGAAG | GGTAGACCTGGCCCCCCAGGTGTTCCT c.420
 E  K   | G  E  L  G  R  P  G  R  K   | G  R  P  G  P  P  G  V  P   p.140

          .         .         .         .      | 07  .         .    g.51279
 GGCATGCCTGGGCCCATCGGTTGGCCAGGCCCTGAAGGACCCAGG | GGTGAAAAAGGTGAC    c.480
 G  M  P  G  P  I  G  W  P  G  P  E  G  P  R   | G  E  K  G  D      p.160

          .         .         .         .         | 08         .    g.51812
 CTGGGTATGATGGGCTTGCCAGGGTCAAGAGGACCAATGGGCTCCAAG | GGCTACCCTGGA    c.540
 L  G  M  M  G  L  P  G  S  R  G  P  M  G  S  K   | G  Y  P  G      p.180

          .      | 09  .         .         .         .         .    g.52524
 TCCAGAGGGGAAAAG | GGATCCAGAGGTGAAAAGGGTGACCTGGGTCCCAAAGGAGAAAAG    c.600
 S  R  G  E  K   | G  S  R  G  E  K  G  D  L  G  P  K  G  E  K      p.200

  | 10       .         .         .       | 11 .         .         . g.56159
  | GGTTTCCCAGGATTTCCTGGAATGTTGGGGCAGAAA | GGTGAAATGGGTCCAAAAGGTGAA c.660
  | G  F  P  G  F  P  G  M  L  G  Q  K   | G  E  M  G  P  K  G  E   p.220

          .         .         .         .         .        | 12.    g.60317
 CCTGGGATAGCAGGACACCGAGGACCCACAGGAAGACCAGGAAAACGAGGCAAGCAG | GGA    c.720
 P  G  I  A  G  H  R  G  P  T  G  R  P  G  K  R  G  K  Q   | G      p.240

          .         .         .         .         .         .       g.60377
 CAGAAAGGGGATAGTGGAGTTATGGGCCCACCAGGCAAGCCTGGGCCTTCTGGTCAACCT       c.780
 Q  K  G  D  S  G  V  M  G  P  P  G  K  P  G  P  S  G  Q  P         p.260

          .         .         .     | 13   .         .         .    g.68452
 GGCCGTCCGGGGCCCCCAGGCCCCCCACCTGCAG | GACAACTTATAATGGGACCCAAAGGG    c.840
 G  R  P  G  P  P  G  P  P  P  A  G |   Q  L  I  M  G  P  K  G      p.280

          .         .         .         .         .         .       g.68512
 GAAAGAGGATTTCCCGGGCCTCCAGGAAGATGTCTTTGTGGACCCACTATGAATGTGAAT       c.900
 E  R  G  F  P  G  P  P  G  R  C  L  C  G  P  T  M  N  V  N         p.300

          .         .         .         .         .     | 14   .    g.70178
 AACCCTTCCTACGGGGAATCTGTGTATGGGCCCAGTTCCCCGCGAGTTCCTGTG | ATTTTT    c.960
 N  P  S  Y  G  E  S  V  Y  G  P  S  S  P  R  V  P  V   | I  F      p.320

          .         .         .         .         .         .       g.70238
 GTGGTCAACAACCAGGAGGAGCTTGAGAGGCTGAACACCCAAAACGCCATTGCCTTCCGC       c.1020
 V  V  N  N  Q  E  E  L  E  R  L  N  T  Q  N  A  I  A  F  R         p.340

          .         .         .         .         .     | 15   .    g.70738
 AGAGACCAGAGATCTCTGTACTTCAAGGACAGCCTTGGCTGGCTCCCCATCCAG | CTGACC    c.1080
 R  D  Q  R  S  L  Y  F  K  D  S  L  G  W  L  P  I  Q   | L  T      p.360

          .         .         .         .         .         .       g.70798
 CCTTTCTACCCTGTGGATTACACTGCAGACCAGCACGGCACCTGTGGGGATGGGCTCCTG       c.1140
 P  F  Y  P  V  D  Y  T  A  D  Q  H  G  T  C  G  D  G  L  L         p.380

          .         .         .         .         .      | 16  .    g.72825
 CAGCCTGGGGAGGAGTGTGACGACGGTAACAGCGATGTGGGTGACGACTGCATCC | GCTGT    c.1200
 Q  P  G  E  E  C  D  D  G  N  S  D  V  G  D  D  C  I  R |   C      p.400

          .         .         .         .         .         .       g.72885
 CACCGTGCCTACTGTGGAGATGGTCACCGGCATGAGGGTGTGGAGGACTGTGACGGCTCT       c.1260
 H  R  A  Y  C  G  D  G  H  R  H  E  G  V  E  D  C  D  G  S         p.420

          .         .         .         | 17         .         .    g.75060
 GACTTTGGCTACCTGACATGCGAGACCTATCTCCCTGG | GTCATATGGAGACCTGCAATGC    c.1320
 D  F  G  Y  L  T  C  E  T  Y  L  P  G  |  S  Y  G  D  L  Q  C      p.440

          .         .         .         .                           g.75108
 ACCCAGTACTGCTACATCGACTCCACGCCCTGCCGCTACTTCACCTGA                   c.1368
 T  Q  Y  C  Y  I  D  S  T  P  C  R  Y  F  T  X                     p.455

          .         .         .         .         .         .       g.75168
 gggccgtgaggagaaggtgggctgcgccccacagaactggcagcagcttctccactgtca       c.*60

          .         .         .         .         .         .       g.75228
 tcaaactggccatgtcctggccccgtctccaccaacctttgtgtgacaaaaacaaggaca       c.*120

          .         .         .         .         .         .       g.75288
 aattcctgctactaagacatgctgttaactcagtctgactggaagaatttaggaccactg       c.*180

          .         .         .         .         .         .       g.75348
 catcctgtcttaatccaaggtactggaaaaccttccacatgcccaacctgagacctgttc       c.*240

          .         .         .         .         .         .       g.75408
 cccatcgctaccatttggccaaacaaccggctacaatgctcttcctcttctggaatgttg       c.*300

          .         .         .         .         .         .       g.75468
 ctgacccaggccgtggacttggctgagcactgttagacacacacagacctgcaggctgtt       c.*360

          .         .         .         .         .         .       g.75528
 ttagaatgttttgatctctttggggaatctggagtacaggcctctccgcccctgaccacc       c.*420

          .         .         .         .         .         .       g.75588
 gaaacgtgcaggcattctcactcacactgggcagcccgctgtcgggtctctctaggccta       c.*480

          .         .         .         .         .         .       g.75648
 tgaaccacaaagcagggaagtgggcacgttctctcggggtggctcacagctttgaacctg       c.*540

          .         .         .         .         .         .       g.75708
 ccaaaggacccctcgactggccacagcccagcccagcctgacgtggatgtggctgcccag       c.*600

          .         .         .         .         .         .       g.75768
 gaaaagacttaactgtgaaaaagtactgagaacccacctgacccaggcttgccccaagca       c.*660

          .         .         .         .         .         .       g.75828
 gaggctagagaagaggctcctcttctcagtgtttcccaaaggggcggctcttgtggtttc       c.*720

          .         .         .         .         .         .       g.75888
 aaaatctctggcaccatcttgacctcttggctctctctgcactttgccccctgtctcaaa       c.*780

          .         .         .         .         .         .       g.75948
 aatgtccctcatgtccatttcctgtccaggagactcatgaggactgtgtgacctgcacaa       c.*840

          .         .         .         .         .         .       g.76008
 gcccacacctgggcaggctgttggtgtctccttggtccttaggcagatactcccctgagt       c.*900

          .         .         .         .         .         .       g.76068
 ccccgatctagggccagctgcagagggctctctctaggcagagcgttcctggccagagct       c.*960

          .         .         .         .         .         .       g.76128
 ctacctctttgcctcctgctgacccctgacagcgtcccgtggcatttctttcatgtctgc       c.*1020

          .         .         .         .         .         .       g.76188
 atattgcatagccttgtcctcctgtgtgcctgagctcctcccttttcaataagattatta       c.*1080

          .         .         .         .         .         .       g.76248
 gtcgtgcatgtctgtgagctgcctttcatcaccatttttcctgagtagggcttagtttta       c.*1140

          .         .         .         .         .         .       g.76308
 ttctggaaagacatctccaaggtgaggtccacccccacagcagacctcaagtagaaattg       c.*1200

          .         .         .         .         .         .       g.76368
 cccaatttttaccagctggagggacacccttgggtttttgtacgaagctatttaatgagc       c.*1260

          .         .         .         .         .         .       g.76428
 ctgtgtcttggggactcagcaggctggagcttggggcctggtggaccatcacctggtgtc       c.*1320

          .         .         .         .         .         .       g.76488
 tgtaggtggacccggtctcccacaggtgacatcaacctgagggtggcgtctttagagaca       c.*1380

          .         .         .         .         .         .       g.76548
 ggcacatgggcagccctgttcccttcgcctctactgcgaggcctggggagatgttgtttt       c.*1440

          .         .         .         .         .         .       g.76608
 catgctgcttccaccatcacactggggtttctggatgggaaataaaaaaataaaggcagt       c.*1500

          .                                                         g.76619
 tcatttcccca                                                        c.*1511

 (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 Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 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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