Glycerol Kinase (GK) - 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 GK gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008178.1, covering GK transcript variant-4 (NM_001205019.1). The sequence was taken from NG_008178.1, covering GK transcript variant 3 , extended with an exon 9 sequence from transcript variant 1 (NM_203391.2). Exons 9 and 20 are alternatively spliced, exon 9 missing in transcript variant-3 (NM_001128127.2), exon 20 missing in variant-1 (NM_203391.3) and both missing in variant-2 (NM_000167.5).

Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5059
  gggccggaggggcggggtgagaaggctgcgcgcgggtaaaggggccgcctcgagcgcgg       c.-121

 .         .         .         .         .         .                g.5119
 tccgagcgttcagcggacgcgcgcggcctcgatctctggactcgtcacctgcccctcccc       c.-61

 .         .         .         .         .         .                g.5179
 ctcccgccgccgtcacccaggaaaccggccgcaatcgccggccgacctgaagctggtttc       c.-1

          .         .         .         .         .         .       g.5239
 ATGGCAGCCTCAAAGAAGGCAGTTTTGGGGCCATTGGTGGGGGCGGTGGACCAGGGCACC       c.60
 M  A  A  S  K  K  A  V  L  G  P  L  V  G  A  V  D  Q  G  T         p.20

          .         | 02         .         .         .         .    g.17194
 AGTTCGACGCGCTTTTTG | GTTTTCAATTCAAAAACAGCTGAACTACTTAGTCATCATCAA    c.120
 S  S  T  R  F  L   | V  F  N  S  K  T  A  E  L  L  S  H  H  Q      p.40

          .         .         .   | 03     .         .         .    g.19681
 GTAGAAATAAAACAAGAGTTCCCAAGAGAAGG | ATGGGTGGAACAGGACCCTAAGGAAATT    c.180
 V  E  I  K  Q  E  F  P  R  E  G  |  W  V  E  Q  D  P  K  E  I      p.60

          .         .         .         .         .         .       g.19741
 CTACATTCTGTCTATGAGTGTATAGAGAAAACATGTGAGAAACTTGGACAGCTCAATATT       c.240
 L  H  S  V  Y  E  C  I  E  K  T  C  E  K  L  G  Q  L  N  I         p.80

          .          | 04        .         .         .         .    g.29057
 GATATTTCCAACATAAAAG | CTATTGGTGTCAGCAACCAGAGGGAAACCACTGTAGTCTGG    c.300
 D  I  S  N  I  K  A |   I  G  V  S  N  Q  R  E  T  T  V  V  W      p.100

          .         .         .        | 05.         .         .    g.42787
 GACAAGATAACTGGAGAGCCTCTCTACAATGCTGTGG | TGTGGCTTGATCTAAGAACCCAG    c.360
 D  K  I  T  G  E  P  L  Y  N  A  V  V |   W  L  D  L  R  T  Q      p.120

          .         .         .         .         .     | 06   .    g.46047
 TCTACCGTTGAGAGTCTTAGTAAAAGAATTCCAGGAAATAATAACTTTGTCAAG | TCCAAG    c.420
 S  T  V  E  S  L  S  K  R  I  P  G  N  N  N  F  V  K   | S  K      p.140

          .         .         .         .         .         .       g.46107
 ACAGGCCTTCCACTTAGCACTTACTTCAGTGCAGTGAAACTTCGTTGGCTCCTTGACAAT       c.480
 T  G  L  P  L  S  T  Y  F  S  A  V  K  L  R  W  L  L  D  N         p.160

          .         .         .         .         .         .       g.46167
 GTGAGAAAAGTTCAAAAGGCCGTTGAAGAAAAACGAGCTCTTTTTGGGACTATTGATTCA       c.540
 V  R  K  V  Q  K  A  V  E  E  K  R  A  L  F  G  T  I  D  S         p.180

          .   | 07     .         .         .         .         .    g.47731
 TGGCTTATTTGG | AGTTTGACAGGAGGAGTCAATGGAGGTGTCCACTGTACAGATGTAACA    c.600
 W  L  I  W   | S  L  T  G  G  V  N  G  G  V  H  C  T  D  V  T      p.200

          .         .         .         .         .         .       g.47791
 AATGCAAGTAGGACTATGCTTTTCAACATTCATTCTTTGGAATGGGATAAACAACTCTGC       c.660
 N  A  S  R  T  M  L  F  N  I  H  S  L  E  W  D  K  Q  L  C         p.220

    | 08     .         .         .         .         .         .    g.48316
 GA | ATTTTTTGGAATTCCAATGGAAATTCTTCCAAATGTCCGGAGTTCTTCTGAGATCTAT    c.720
 E  |  F  F  G  I  P  M  E  I  L  P  N  V  R  S  S  S  E  I  Y      p.240

           | 09        .        | 10.         .         .         . g.52088
 GGCCTAATG | AAAATCTCTCATAGCGTG | AAAGCTGGGGCCTTGGAAGGTGTGCCAATATCT c.780
 G  L  M   | K  I  S  H  S  V   | K  A  G  A  L  E  G  V  P  I  S   p.260
           ^ alternatively spliced exon

     | 11    .         .         .         .         .         .    g.52536
 GGG | TGTTTAGGGGACCAGTCTGCTGCATTGGTGGGACAAATGTGCTTCCAGATTGGACAA    c.840
 G   | C  L  G  D  Q  S  A  A  L  V  G  Q  M  C  F  Q  I  G  Q      p.280

          .  | 12      .         .         .         .     | 13   . g.59701
 GCCAAAAATAC | GTATGGAACAGGATGTTTCTTACTATGTAATACAGGCCATAAG | TGTGTA c.900
 A  K  N  T  |  Y  G  T  G  C  F  L  L  C  N  T  G  H  K   | C  V   p.300

          .         .         .         .         .         .       g.59761
 TTTTCTGATCATGGCCTTCTCACCACAGTGGCTTACAAACTTGGCAGAGACAAACCAGTA       c.960
 F  S  D  H  G  L  L  T  T  V  A  Y  K  L  G  R  D  K  P  V         p.320

          .      | 14  .         .         .         .         .    g.70224
 TATTATGCTTTGGAA | GGTTCTGTAGCTATAGCTGGTGCTGTTATTCGCTGGCTAAGAGAC    c.1020
 Y  Y  A  L  E   | G  S  V  A  I  A  G  A  V  I  R  W  L  R  D      p.340

          .         .         .     | 15   .         .         .    g.71086
 AATCTTGGAATTATAAAGACCTCAGAAGAAATTG | AAAAACTTGCTAAAGAAGTAGGTACT    c.1080
 N  L  G  I  I  K  T  S  E  E  I  E |   K  L  A  K  E  V  G  T      p.360

          .         .         .         .         .         .       g.71146
 TCTTATGGCTGCTACTTCGTCCCAGCATTTTCGGGGTTATATGCACCTTATTGGGAGCCC       c.1140
 S  Y  G  C  Y  F  V  P  A  F  S  G  L  Y  A  P  Y  W  E  P         p.380

          .  | 16      .         .         .         .         .    g.71701
 AGCGCAAGAGG | GATAATCTGTGGACTCACTCAGTTCACCAATAAATGCCATATTGCTTTT    c.1200
 S  A  R  G  |  I  I  C  G  L  T  Q  F  T  N  K  C  H  I  A  F      p.400

          .         .         .       | 17 .         .         .    g.72286
 GCTGCATTAGAAGCTGTTTGTTTCCAAACTCGAGAG | ATTTTGGATGCCATGAATCGAGAC    c.1260
 A  A  L  E  A  V  C  F  Q  T  R  E   | I  L  D  A  M  N  R  D      p.420

          .         .         .         .         .         .       g.72346
 TGTGGAATTCCACTCAGTCATTTGCAGGTAGATGGAGGAATGACCAGCAACAAAATTCTT       c.1320
 C  G  I  P  L  S  H  L  Q  V  D  G  G  M  T  S  N  K  I  L         p.440

          .         .         .        | 18.         .         .    g.72516
 ATGCAGCTACAAGCAGACATTCTGTATATACCAGTAG | TGAAGCCCTCAATGCCCGAAACC    c.1380
 M  Q  L  Q  A  D  I  L  Y  I  P  V  V |   K  P  S  M  P  E  T      p.460

          .         .         .         .         .         .       g.72576
 ACTGCACTGGGTGCGGCTATGGCGGCAGGGGCTGCAGAAGGAGTCGGCGTATGGAGTCTC       c.1440
 T  A  L  G  A  A  M  A  A  G  A  A  E  G  V  G  V  W  S  L         p.480

          .         .         .         .         .         .       g.72636
 GAACCCGAGGATTTGTCTGCCGTCACGATGGAGCGGTTTGAACCTCAGATTAATGCGGAG       c.1500
 E  P  E  D  L  S  A  V  T  M  E  R  F  E  P  Q  I  N  A  E         p.500

   | 19      .         .         .         .         .         .    g.75801
 G | AAAGTGAAATTCGTTATTCTACATGGAAGAAAGCTGTGATGAAGTCAATGGGTTGGGTT    c.1560
 E |   S  E  I  R  Y  S  T  W  K  K  A  V  M  K  S  M  G  W  V      p.520

          .         .   | 20     .         .         .         .    g.79145
 ACAACTCAATCTCCAGAAAGTG | GTGACCCTAGTATCTTCTGTAGTCTGCCCTTGGGCTTT    c.1620
 T  T  Q  S  P  E  S  G |   D  P  S  I  F  C  S  L  P  L  G  F      p.540
                        ^ alternatively spliced exon

          .         .         .         .          | 21        .    g.80384
 TTTATAGTGAGTAGCATGGTAATGTTAATCGGAGCAAGGTACATCTCAG | GTATTCCATAA    c.1680
 F  I  V  S  S  M  V  M  L  I  G  A  R  Y  I  S  G |   I  P  X      p.559

          .         .         .         .         .         .       g.80444
 aacctaccaactcatggattcccaagatgtgagctttttacataatgaaagaacccagca       c.*60

          .         .         .         .         .         .       g.80504
 attctgtctcttaatgcaatgacactattcatagactttgattttatttataagccactt       c.*120

          .         .         .         .         .         .       g.80564
 gctgcatgaccctccaagtagacctgtggcttaaaataaagaaaatgcagcaaaaagaat       c.*180

          .         .         .         .         .         .       g.80624
 gctatagaaatatttggtggttttttttttttttaaacatccacagttaaggttgggcca       c.*240

          .         .         .         .         .         .       g.80684
 gctacctttggggctgaccccctccattgccataacatcctgctccattccctctaagat       c.*300

          .         .         .         .         .         .       g.80744
 gtaggaagaattcggatccttaccattggaatcttccatcgaacatactcaaacactttt       c.*360

          .         .         .         .         .         .       g.80804
 ggaccaggatttgagtctctgcatgacatatacttgattaaaaggttattactaacctgt       c.*420

          .         .         .         .         .         .       g.80864
 taaaaatcagcagctctttgcttttaacagacaccctaaaagtcttcttttctacatagt       c.*480

          .         .         .         .         .         .       g.80924
 tgaagacagcaacatcttcactgaatgtttgaatagaaacctctactaaattattaaaat       c.*540

          .         .         .         .         .         .       g.80984
 agacatttagtgttctcacagcttggatatttttctgaaaagttatttgccaaaactgaa       c.*600

          .         .         .         .         .         .       g.81044
 atccttcagatgttttccatggtcccactaattataatgactttctgtctggatcttata       c.*660

          .         .         .         .         .         .       g.81104
 ggaaaagatactttcttttttcttccatctttcctttttatattttttactttgtatgta       c.*720

          .         .         .         .         .         .       g.81164
 taacatacatgcctatatattttatacactgagggtagcccatttataaattaagagcac       c.*780

          .         .         .         .         .         .       g.81224
 attatattcagaaggttctaacagggctggtcttaagtgaaccactgtgtatataaatat       c.*840

          .         .         .         .         .         .       g.81284
 gttggaaaacagctgtatacatttttgggcaacggttatgcataatatttaccaggagaa       c.*900

          .         .         .         .         .         .       g.81344
 tttttttcttaacaagccaacatttaaaatttatgttttatgtcaataaaagaaaatata       c.*960

          .         .         .         .         .         .       g.81404
 ctttattgtgacttcaactatatttcttatcccttacatttttatttaattgtcttagct       c.*1020

          .         .         .         .         .         .       g.81464
 taaaaaaagaagaaactgtggaatactacagtaaatattgttttcaaacacaagcaataa       c.*1080

          .         .         .         .         .         .       g.81524
 ttcaaatagttatttttcttttgaattaattttagacatattttggatcctattgagggg       c.*1140

          .         .         .         .         .         .       g.81584
 ataagaggatgtcaaaaaagttaaatacctaagtagaaaaaaatatagaaataaagccaa       c.*1200

          .         .         .         .         .         .       g.81644
 gaatctctttcagttcaaatgttatcaattgttaataagaaattgctatctgggatgaca       c.*1260

          .         .         .         .         .         .       g.81704
 gaattacctctgcttagtatctcattataactgaaagaaggtttatcattacaaatacct       c.*1320

          .         .         .         .         .         .       g.81764
 tccaatgaaaccaagaatttctcaaaatatttaatgtcacatattataagaagttaccta       c.*1380

          .         .         .         .         .         .       g.81824
 atcctgcttcttaacatcaatttttaaaaatatcttaaaattactttgttttgtagtaaa       c.*1440

          .         .         .         .         .         .       g.81884
 cagtgaagaaaagattgcctcctaattatttttttcaatgagtgctgaatgggaaaacat       c.*1500

          .         .         .         .         .         .       g.81944
 ttatatcttactataaaaggttctgttttgtttggaatcaatggtagctttattgactgt       c.*1560

          .         .         .         .         .         .       g.82004
 tctgattgtgctgtttctaatttattgaatctgctaggttttattgatgcagccaccact       c.*1620

          .         .         .         .         .         .       g.82064
 taagtgacataaatattatagaaaggtactgtgaaatgatcactttgtggcaggggtact       c.*1680

          .         .         .         .         .         .       g.82124
 tttaaacataaatgtttctacaaaagtaggttgagttcattgtaaataattgtgaaagcc       c.*1740

          .         .         .         .         .         .       g.82184
 actgttcaaataattttaagattacattaatttttctataaattggaagatttataaatg       c.*1800

          .         .         .         .         .         .       g.82244
 tttgaaattgtacacattgatatttaatgacaaatttacttaaaataaattgaccccttg       c.*1860

          .         .         .         .         .         .       g.82304
 ttcttacttgcatttctcatttacagactagaacttagttgaaagttaaattaagaaaga       c.*1920

          .         .         .         .         .         .       g.82364
 tgtttcagaggccgggcacggtggctgacgcctgtaatcccagcactttgggaggccgag       c.*1980

          .         .         .         .         .         .       g.82424
 gtgggcagatcacctgaggtcaggagttcgggactagcctaaccgacatggagaaaccct       c.*2040

          .         .         .         .         .         .       g.82484
 atctctactaaaaaaaaaaaaagatgtttcaggacatgtgaaacttggctgttagcgctt       c.*2100

          .         .         .         .         .         .       g.82544
 gatagggcacactctgaagagttaaccaacagccaaagaagtaatttctgtaatgatgaa       c.*2160

          .         .         .         .         .         .       g.82604
 cactttaatcattctattagaagaaactacactgtcccatctcagcatttgcaaaaaata       c.*2220

          .         .         .         .         .         .       g.82664
 atgttggtaaggtcagcagccattatcaacagggccttgcatggctaactttgaccacca       c.*2280

          .         .         .         .         .         .       g.82724
 tttttctctcaacctgataggcaacacctcaatcctttgttctccaactaatcagtaaaa       c.*2340

          .         .         .         .         .         .       g.82784
 taagtaatgcatctctgcttctgtaatgatatcttagaatttttagtatgtttcttttga       c.*2400

          .         .         .         .         .         .       g.82844
 agtgcccaaagcccaattctttgggatatcttttgggtatctggtatcatgtgggagtga       c.*2460

          .         .         .         .         .         .       g.82904
 agaaagaaagtttttggagaaaccaacaaatgaaagctgtgatagcacagaagctaatgg       c.*2520

          .         .         .         .         .         .       g.82964
 cattgacagtggagtaggtagtatttaatctgtagtgtttacaacatagtagatagaagt       c.*2580

          .         .         .         .         .         .       g.83024
 acaaaaatttttttaactataactctttaatagcttgttttatctagtaatatttaaata       c.*2640

          .         .         .         .         .         .       g.83084
 atgaagtttccttgatcctttgcttttgcaacctaacaactttaataataagttcacaca       c.*2700

          .         .                                               g.83104
 ataaacaaattagtagaaaa                                               c.*2720

 (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 Glycerol 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 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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